ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.909G>T (p.Arg303=)

dbSNP: rs1850478673
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Total submissions: 1
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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 RCV001195475 SCV001365852 likely benign not specified 2019-07-02 criteria provided, single submitter clinical testing The p.Arg303Arg variant in USH1C is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7.

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