ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.264G>A (p.Val88=)

dbSNP: rs397517879
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Total submissions: 2
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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 RCV000041287 SCV000064978 likely benign not specified 2012-05-23 criteria provided, single submitter clinical testing Val88Val in exon 4 of USH1C: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
Invitae RCV001488734 SCV001693258 likely benign not provided 2022-10-20 criteria provided, single submitter clinical testing

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