ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2547-1G>T

gnomAD frequency: 0.00001  dbSNP: rs571304936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665878 SCV000790070 likely benign Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000928159 SCV001073766 likely benign not provided 2021-12-07 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000928159 SCV001952240 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000928159 SCV001967277 likely pathogenic not provided no assertion criteria provided clinical testing

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