ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1085+21C>G

gnomAD frequency: 0.43168  dbSNP: rs2240488
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Total submissions: 7
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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 RCV000041248 SCV000064939 benign not specified 2009-06-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000041248 SCV000316306 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538058 SCV001755068 benign Usher syndrome type 1C 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538059 SCV001755069 benign Autosomal recessive nonsyndromic hearing loss 18A 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001711129 SCV001942216 benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711129 SCV003516912 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711129 SCV005323630 benign not provided criteria provided, single submitter not provided

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