ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)

gnomAD frequency: 0.00001  dbSNP: rs111033485
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036167 SCV000059819 uncertain significance not specified 2009-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000668896 SCV000793570 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-08-18 criteria provided, single submitter clinical testing
GeneDx RCV001762114 SCV001990530 uncertain significance not provided 2019-07-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001826550 SCV002093118 uncertain significance Usher syndrome type 1B 2020-10-04 no assertion criteria provided clinical testing

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