ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.3364T>G (p.Ser1122Ala) (rs148135241)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041826 SCV000065522 benign not specified 2013-03-09 criteria provided, single submitter clinical testing Ser1122Ala in Exon 17 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 6.0% (24/394) of Asian chromosomes from the 1000 Genomes Project (dbSNP rs148135241).
GeneDx RCV000041826 SCV000169736 benign not specified 2013-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756884 SCV000884852 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
Invitae RCV000756884 SCV001049515 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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