ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.351G>C (p.Ala117=)

gnomAD frequency: 0.78277  dbSNP: rs28710284
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Total submissions: 3
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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 RCV000605721 SCV000744335 benign 46,XY sex reversal 6 2017-11-02 criteria provided, single submitter clinical testing
Invitae RCV000605721 SCV001726227 benign 46,XY sex reversal 6 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605721 SCV000734414 benign 46,XY sex reversal 6 no assertion criteria provided clinical testing

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