ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)

gnomAD frequency: 0.00001  dbSNP: rs887619644
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Total submissions: 2
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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 RCV000785156 SCV000923720 uncertain significance Autosomal dominant nonsyndromic hearing loss 4A 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785157 SCV000923721 uncertain significance Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2019-01-01 criteria provided, single submitter clinical testing

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