ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)

gnomAD frequency: 0.00046  dbSNP: rs201195495
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224963 SCV000280623 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga) RCV000224963 SCV000702646 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000224963 SCV001416615 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000224963 SCV001778629 uncertain significance not provided 2023-01-12 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
Natera, Inc. RCV001271756 SCV001453182 uncertain significance Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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