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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV004705959 SCV005223355 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915794 SCV004731971 benign MAP3K1-related disorder 2019-05-16 no assertion criteria provided 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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