ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2656-47C>T

gnomAD frequency: 0.38117  dbSNP: rs2072225
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241835 SCV000316315 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829571 SCV000971301 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV002244710 SCV002514259 benign Autosomal recessive nonsyndromic hearing loss 18A 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244709 SCV002514270 benign Usher syndrome type 1C 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829571 SCV005323592 benign not provided criteria provided, single submitter not provided

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