ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro)

gnomAD frequency: 0.00149  dbSNP: rs572205361
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 RCV000950680 SCV001097009 benign 46,XY sex reversal 6 2024-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818964 SCV002069756 benign not specified 2021-02-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716638 SCV005301108 benign not provided criteria provided, single submitter not provided

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