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: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000599946 SCV001726232 benign 46,XY sex reversal 6 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001675939 SCV001894650 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675939 SCV005301133 benign not provided criteria provided, single submitter not provided
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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