ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) (rs397516293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036077 SCV000059729 likely benign not specified 2010-08-05 criteria provided, single submitter clinical testing Met708Val in exon 18 of MYO7A: This variant is not expected to have clinical sig nificance because this residue is not highly conserved across species. In additi on, computational analyses (PolyPhen, SIFT, AlignGVGD) do not suggest a high lik elihood of clinical significance.
Counsyl RCV000665188 SCV000789262 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-01-20 criteria provided, single submitter clinical testing

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