ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.675-4G>A (rs550964012)

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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 RCV000607812 SCV000713166 likely benign not specified 2017-05-02 criteria provided, single submitter clinical testing c.675-4G>A in intron 8 of USH1C: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 1/14978 European chromosomes by the Genome Aggregation Dat abase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs550964012).
Invitae RCV000932122 SCV001077802 likely benign not provided 2020-10-04 criteria provided, single submitter clinical testing

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