ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.582C>T (p.Gly194=)

gnomAD frequency: 0.00001  dbSNP: rs397517882
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Total submissions: 3
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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 RCV000041296 SCV000064987 likely benign not specified 2012-08-14 criteria provided, single submitter clinical testing Gly194Gly in exon 8 of USH1C: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the conserved region splice consensus sequence.
Counsyl RCV000665373 SCV000789486 likely benign Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513579 SCV003518302 likely benign not provided 2023-11-02 criteria provided, single submitter clinical testing

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