ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.14072A>G (p.His4691Arg)

gnomAD frequency: 0.01799  dbSNP: rs12944088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002118154 SCV002405468 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002118154 SCV005251936 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV002118154 SCV005408563 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing BS1, BS2, BP4, PS4_supporting

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