ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) (rs111033331)

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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 RCV000036172 SCV000059824 likely benign not specified 2016-03-31 criteria provided, single submitter clinical testing p.Asp1661Asp in exon 36 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence. It has been identified in 5/66656 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs111033331)
Counsyl RCV000664868 SCV000788890 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV000917460 SCV001062738 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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