ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys) (rs141539554)

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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 RCV000606705 SCV000731510 benign not specified 2017-02-16 criteria provided, single submitter clinical testing p.Arg2001Cys in exon 30 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.5% (47/8630) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs141539554). In addition, this amino acid position is not highly conse rved in mammals including three mammals (shrew, star-nosed mole, and elephant) w ith a Cysteine (C) at this position.
Invitae RCV000900596 SCV001044922 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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