ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) (rs192115090)

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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 RCV000152601 SCV000201896 benign not specified 2015-10-20 criteria provided, single submitter clinical testing p.Pro2210Ala in exon 34 of USH2A:This variant is not expected to have clinical significance because it has been identified in 1% (84/8568) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC,; dbSNP rs192115090).
GeneDx RCV000834972 SCV000976744 benign not provided 2020-03-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24938718, 29625443, 31904091)
Invitae RCV000834972 SCV001038685 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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