ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2400C>T (p.Asp800=)

gnomAD frequency: 0.00001  dbSNP: rs139787873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983219 SCV001131240 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897997 SCV004714121 likely benign USH1C-related condition 2020-08-19 criteria provided, single submitter 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).
Natera, Inc. RCV001827119 SCV002081318 likely benign Usher syndrome type 1C 2020-07-25 no assertion criteria provided clinical testing

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