ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)

gnomAD frequency: 0.00962  dbSNP: rs78253373
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041746 SCV000065442 benign not specified 2011-06-21 criteria provided, single submitter clinical testing Ser4588Tyr in exon 63 of USH2A: This variant is predicted to be benign based on its high frequency in the general population (dbSNP rs78253373).
GeneDx RCV000041746 SCV000515238 benign not specified 2015-07-02 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 RCV000880724 SCV000605539 benign not provided 2022-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000880724 SCV001023843 benign not provided 2025-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504923 SCV002794882 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-07-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450777 SCV004183133 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276153 SCV004183134 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000880724 SCV005287602 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276153 SCV001462007 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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