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: 6
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000615554 SCV001726228 benign 46,XY sex reversal 6 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001712714 SCV001945699 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712714 SCV005301118 benign not provided criteria provided, single submitter not provided
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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