ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.834+9A>G

gnomAD frequency: 0.00344  dbSNP: rs73135067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952159 SCV001098639 benign 46,XY sex reversal 6 2023-04-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818978 SCV002070081 likely benign not specified 2021-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915794 SCV004731971 benign MAP3K1-related disorder 2019-05-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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