ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys)

gnomAD frequency: 0.00006  dbSNP: rs755994602
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714674 SCV000845394 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2018-08-07 criteria provided, single submitter clinical testing

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