ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.3681-26A>T

gnomAD frequency: 0.50766  dbSNP: rs788337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721955 SCV001949194 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776306 SCV002014413 benign Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776305 SCV002014414 benign Autosomal dominant nonsyndromic hearing loss 4A 2021-09-05 criteria provided, single submitter clinical testing

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