ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) (rs397516297)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667296 SCV000791727 likely benign Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-05-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036095 SCV000059747 likely benign not specified 2010-09-16 criteria provided, single submitter clinical testing Leu950Leu in exon 23 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction.

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