ClinVar Miner

Submissions for variant NM_138761.4(BAX):c.121dup (p.Glu41fs)

dbSNP: rs398122840
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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 RCV001267419 SCV001445600 uncertain significance Inborn genetic diseases 2018-01-18 criteria provided, single submitter clinical testing
OMIM RCV000010119 SCV000030340 pathogenic Carcinoma of colon 1997-02-14 no assertion criteria provided literature only

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