ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr)

dbSNP: rs782432573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988601 SCV001138380 likely pathogenic Autosomal recessive nonsyndromic hearing loss 2 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV003128732 SCV003805264 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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