ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2443C>T (p.Leu815=)

gnomAD frequency: 0.00080  dbSNP: rs148477093
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724931 SCV000332507 uncertain significance not provided 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000405725 SCV000727664 likely benign not specified 2018-02-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000724931 SCV001042316 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833311 SCV002081273 likely benign Usher syndrome type 1C 2020-02-05 no assertion criteria provided clinical testing

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