ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.563-17C>A

gnomAD frequency: 0.00116  dbSNP: rs201570558
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002154322 SCV002466103 benign not provided 2024-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500337 SCV002813214 likely benign Autosomal dominant nonsyndromic hearing loss 4A; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-08-06 criteria provided, single submitter clinical testing

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