ClinVar Miner

Submissions for variant NC_000002.12:g.189564177T>A

gnomAD frequency: 0.00022  dbSNP: rs368420430
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000190909 SCV001594685 likely benign Hemochromatosis type 4 2025-01-29 criteria provided, single submitter clinical testing
GeneReviews RCV000190909 SCV000245795 pathogenic Hemochromatosis type 4 2015-09-17 no assertion criteria provided literature only

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