ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.760-4C>T (rs374167444)

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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 RCV000041301 SCV000064992 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 760-4C>T in Intron 09 of USH1C: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and has been identified in 2/7020 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project ( EVS).
Invitae RCV000881764 SCV001024957 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing

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