ClinVar Miner

Submissions for variant NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn) (rs267607477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057502 SCV000088616 not provided not provided no assertion provided not provided
OMIM RCV000023697 SCV000044988 pathogenic Hypotrichosis 3 2011-04-01 no assertion criteria provided literature only

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