ClinVar Miner

Submissions for variant NM_002025.4(AFF2):c.1788C>A (p.Ala596=)

gnomAD frequency: 0.00109  dbSNP: rs149492076
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 RCV000945817 SCV001091877 benign not provided 2018-12-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818928 SCV002066088 likely benign not specified 2019-01-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000945817 SCV005206829 likely benign not provided criteria provided, single submitter not provided

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