ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.483-11C>A

gnomAD frequency: 0.66503  dbSNP: rs832567
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000608582 SCV000744336 benign 46,XY sex reversal 6 2017-11-02 criteria provided, single submitter clinical testing
GeneDx RCV001712713 SCV001940267 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Invitae RCV000608582 SCV002407363 benign 46,XY sex reversal 6 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608582 SCV000734415 benign 46,XY sex reversal 6 no assertion criteria provided clinical testing

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