ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.5962G>A (p.Glu1988Lys)

gnomAD frequency: 0.00001  dbSNP: rs749019041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498623 SCV000590209 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV001333911 SCV001526620 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2018-09-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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