ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn)

gnomAD frequency: 0.61396  dbSNP: rs702689
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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 RCV000605336 SCV000744338 benign 46,XY sex reversal 6 2017-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000605336 SCV001726229 benign 46,XY sex reversal 6 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001637101 SCV001851601 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22468730, 24497709)
Breakthrough Genomics, Breakthrough Genomics RCV001637101 SCV005301127 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605336 SCV000734417 benign 46,XY sex reversal 6 no assertion criteria provided clinical testing

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