ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)

dbSNP: rs397516296
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Total submissions: 3
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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 RCV000036088 SCV000059740 uncertain significance not specified 2011-04-15 criteria provided, single submitter clinical testing The Leu841Pro variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong suppo rt for or against pathogenicity. In summary, the clinical significance of this v ariant cannot be determined with certainty at this time.
Counsyl RCV000668293 SCV000792867 uncertain significance Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2017-07-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272506 SCV001454578 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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