ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=)

gnomAD frequency: 0.77675  dbSNP: rs832583
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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 RCV000599946 SCV000744341 benign 46,XY sex reversal 6 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV000599946 SCV001726232 benign 46,XY sex reversal 6 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001675939 SCV001894650 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000599946 SCV000734419 benign 46,XY sex reversal 6 no assertion criteria provided clinical testing

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