ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) (rs111033394)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041903 SCV000065599 benign not specified 2012-04-27 criteria provided, single submitter clinical testing Asn2377Ser in exon 38 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (35/7016) of European American chromosomes and 0.1% (7/3738) of African American chromosomes in a broad popula tion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; d bSNP rs111033394).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041903 SCV000229930 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000041903 SCV000515234 likely benign not specified 2017-11-14 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512740 SCV000608523 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Counsyl RCV000665008 SCV000789061 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000512740 SCV001054669 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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