ClinVar Miner

Submissions for variant NM_012433.4(SF3B1):c.1155T>G (p.Ala385=)

gnomAD frequency: 0.00304  dbSNP: rs144644361
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 RCV000957560 SCV001104370 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000957560 SCV004148364 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing SF3B1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000957560 SCV005237942 benign not provided criteria provided, single submitter not provided

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