ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=)

gnomAD frequency: 0.83950  dbSNP: rs832575
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000615554 SCV000743220 benign 46,XY sex reversal 6 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000615554 SCV000744337 benign 46,XY sex reversal 6 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV000615554 SCV001726228 benign 46,XY sex reversal 6 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001712714 SCV001945699 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615554 SCV000734416 benign 46,XY sex reversal 6 no assertion criteria provided clinical testing

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