ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys)

gnomAD frequency: 0.00061  dbSNP: rs139265462
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879574 SCV001022612 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000879574 SCV005408560 uncertain significance not provided 2023-12-20 criteria provided, single submitter clinical testing BS4, PP2, PS3_supporting, PS4_moderate
Department of Internal Medicine, University of Texas Health Science Center at Houston RCV000191948 SCV000246196 uncertain significance Moyamoya disease 2 2014-09-08 no assertion criteria provided research
UMR-S1161, Institut national de la santé et de la recherche médicale RCV000191948 SCV000546522 uncertain significance Moyamoya disease 2 2017-03-03 no assertion criteria provided research

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