ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.496+13A>G (rs111033277)

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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 RCV000041293 SCV000064984 benign not specified 2011-06-27 criteria provided, single submitter clinical testing c.496+13A>G in intron 5 of USH1C: This variant is not expected to have clinical significance because it is not located in the conserved region of the splicing c onsensus sequence. Furthermore, this variant is present in over 1% of cases.
Invitae RCV001488934 SCV001693464 likely benign not provided 2020-11-17 criteria provided, single submitter clinical testing

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