ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) (rs184474885)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Deafness Gene Diagnosis,Xijing Hospital RCV000149862 SCV000196716 likely pathogenic Deafness, X-linked 5 no assertion criteria provided clinical testing
OMIM RCV000149862 SCV000257353 pathogenic Deafness, X-linked 5 2015-08-01 no assertion criteria provided literature only

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