ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.2694+30T>C

gnomAD frequency: 0.74599  dbSNP: rs1529492
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001617803 SCV001845999 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776262 SCV002014404 benign Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776261 SCV002014405 benign Autosomal dominant nonsyndromic hearing loss 4A 2021-09-05 criteria provided, single submitter clinical testing

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