ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val)

gnomAD frequency: 0.00021  dbSNP: rs371578161
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262627 SCV001440565 likely benign 46,XY sex reversal 6 2019-01-01 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238334 SCV002009631 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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