ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) (rs117966637)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665509 SCV000789647 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2017-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036119 SCV000059771 likely benign not specified 2016-04-13 criteria provided, single submitter clinical testing p.Cys1201Ser in exon 28 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 0.4% (36/8622) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs117966637).

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