ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.394G>C (p.Asp132His)

gnomAD frequency: 0.00011  dbSNP: rs557606535
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945992 SCV001092071 benign 46,XY sex reversal 6 2024-09-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818931 SCV002068547 likely benign not specified 2020-08-13 criteria provided, single submitter clinical testing

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