ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.360C>T (p.Gly120=)

gnomAD frequency: 0.00060  dbSNP: rs140869579
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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) RCV000595046 SCV000706175 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000595046 SCV001024478 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276297 SCV001462412 uncertain significance Usher syndrome type 1C 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003905539 SCV004718973 likely benign USH1C-related disorder 2019-08-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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