ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg)

dbSNP: rs143853590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000023056 SCV001098206 likely benign 46,XY sex reversal 6 2023-12-15 criteria provided, single submitter clinical testing
Mendelics RCV002247381 SCV002518214 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000023056 SCV000044347 pathogenic 46,XY sex reversal 6 2010-12-10 no assertion criteria provided literature only

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