ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg)

gnomAD frequency: 0.00088  dbSNP: rs55694258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238894 SCV000297196 likely benign not specified 2015-11-10 criteria provided, single submitter clinical testing
Invitae RCV000878301 SCV001021183 benign 46,XY sex reversal 6 2024-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422166 SCV004162845 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MAP3K1: BP4, BS2

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