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: 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 RCV000605721 SCV000744335 benign 46,XY sex reversal 6 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000605721 SCV001726227 benign 46,XY sex reversal 6 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716591 SCV005301110 benign not provided criteria provided, single submitter not provided
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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