ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln)

dbSNP: rs387906788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624691 SCV000741168 likely pathogenic Inborn genetic diseases 2015-10-28 criteria provided, single submitter clinical testing
OMIM RCV000495856 SCV000583606 pathogenic 46,XY sex reversal 6 2017-07-17 no assertion criteria provided literature only

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