ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1261-34C>T

dbSNP: rs2190454
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829567 SCV000971297 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 RCV001538048 SCV001755056 benign Usher syndrome type 1C 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538049 SCV001755057 benign Autosomal recessive nonsyndromic hearing loss 18A 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829567 SCV005323617 benign not provided criteria provided, single submitter not provided

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