ClinVar Miner

Submissions for variant NM_001256071.3(RNF213):c.3780C>T (p.Pro1260=)

gnomAD frequency: 0.00285  dbSNP: rs139471994
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969926 SCV001117474 benign not provided 2023-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969926 SCV004144542 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing RNF213: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000969926 SCV005251866 benign not provided criteria provided, single submitter not provided

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