ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2421C>T (p.His807=) (rs782218928)

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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, Partners HealthCare Personalized Medicine RCV000156626 SCV000206347 likely benign not specified 2014-07-16 criteria provided, single submitter clinical testing His807His in exon 21 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 wit hin the splice consensus sequence.
Counsyl RCV000665709 SCV000789873 likely benign Deafness, autosomal recessive 2; Usher syndrome type 1 2017-02-24 criteria provided, single submitter clinical testing
Invitae RCV000929501 SCV001075132 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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