ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser) (rs200993435)

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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 RCV000156359 SCV000206077 benign not specified 2016-06-21 criteria provided, single submitter clinical testing p.Thr4888Ser in Exon 67 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.3% (218/16510) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut; dbSNP rs200993435).
Invitae RCV000917849 SCV001063142 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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