We have a robust system in place for identifying which variants require confirmation. Our confirmation rules for SNVs and indels (single base changes and small insertions and deletions) are as follows:
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We confirm a variant if:
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It does not meet stringent NGS quality metrics, and
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It has been interpreted as pathogenic or likely pathogenic (disease causing).
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We do not confirm a variant if:
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It meets stringent quality metrics which have been shown to indicate high-accuracy NGS results, or
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It has been interpreted as a variant of uncertain significance, or
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It was previously confirmed in a first-degree relative.
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