ClinVar Miner

Submissions for variant NM_001145809.2(MYH14):c.5469+16C>T

gnomAD frequency: 0.64922  dbSNP: rs3745510
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251787 SCV000306875 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001722300 SCV001949192 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775713 SCV002014417 benign Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775712 SCV002014418 benign Autosomal dominant nonsyndromic hearing loss 4A 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001722300 SCV002406599 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000251787 SCV001925323 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000251787 SCV001962769 benign not specified no assertion criteria provided clinical testing

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