ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) (rs267606630)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000019986 SCV000040284 pathogenic Deafness, autosomal dominant 20 2009-08-15 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059722 SCV000091292 not provided not provided no assertion provided not provided

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