ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2568A>G (p.Val856=) (rs1385487954)

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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, Partners HealthCare Personalized Medicine RCV000610204 SCV000712532 likely benign not specified 2016-10-25 criteria provided, single submitter clinical testing p.Val856Val in exon 26 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It was absent from large population studies .
Invitae RCV000930130 SCV001075775 likely benign not provided 2018-09-20 criteria provided, single submitter clinical testing

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