ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.2886C>G (p.Pro962=)

gnomAD frequency: 0.00284  dbSNP: rs201198197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002066232 SCV002443905 benign 46,XY sex reversal 6 2023-11-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432946 SCV004162850 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing MAP3K1: BP4, BS2
Genetic Services Laboratory, University of Chicago RCV003151228 SCV003839691 likely benign not specified 2022-09-01 no assertion criteria provided clinical testing

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