ClinVar Miner

Submissions for variant NM_032271.3(TRAF7):c.1873C>G (p.Leu625Val)

dbSNP: rs2141298772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV001420198 SCV001622618 likely pathogenic See cases 2021-04-26 criteria provided, single submitter clinical testing PM2_supporting;PM6_moderate;PP2_supporting;PP3_supporting
GeneDx RCV004720906 SCV005326772 pathogenic not provided 2023-08-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis suggests that this missense variant does not alter protein structure/function, but splice predictors indicate that the variant may lead to abnormal gene splicing; This variant is associated with the following publications: (PMID: 32376980)

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