ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) (rs77792891)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041790 SCV000065486 benign not specified 2011-10-12 criteria provided, single submitter clinical testing Tyr5174Tyr in exon 72 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, and has been identified in 19.5% (23/118) of African control chromosomes and 5.2% (301/5823) of general population control chromosomes.
GeneDx RCV000041790 SCV000169778 benign not specified 2011-08-12 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.
Athena Diagnostics Inc RCV000993539 SCV001146606 benign not provided 2019-07-17 criteria provided, single submitter clinical testing
Invitae RCV000993539 SCV001731968 benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276135 SCV001461987 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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