ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) (rs397516296)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668293 SCV000792867 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-07-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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.

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