ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1414-34G>A

gnomAD frequency: 0.16591  dbSNP: rs2237964
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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 RCV000253781 SCV000316309 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000829568 SCV000971298 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 RCV001538021 SCV001755004 benign Usher syndrome type 1C 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001538022 SCV001755005 benign Autosomal recessive nonsyndromic hearing loss 18A 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000829568 SCV005323615 benign not provided criteria provided, single submitter not provided

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