ClinVar Miner

Submissions for variant NM_005144.5(HR):c.3034G>A (p.Asp1012Asn)

gnomAD frequency: 0.00001  dbSNP: rs121434451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000007765 SCV002516563 pathogenic Alopecia universalis congenita 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000007765 SCV000027966 pathogenic Alopecia universalis congenita 2002-10-01 no assertion criteria provided literature only

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