ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.1687-46C>G

gnomAD frequency: 0.05775  dbSNP: rs16886448
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001612462 SCV001841343 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072918 SCV002377143 benign 46,XY sex reversal 6 2024-11-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001612462 SCV005301121 benign not provided criteria provided, single submitter not provided

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