ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.10997T>C (p.Met3666Thr)

gnomAD frequency: 0.00034  dbSNP: rs375097553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515263 SCV001723297 benign not provided 2023-07-13 criteria provided, single submitter clinical testing
GeneDx RCV001515263 SCV002013521 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26530418, 27128593)

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