ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys)

dbSNP: rs1026511416
Minimum review status: Collection method:
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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
Eurofins Ntd Llc (ga) RCV000594421 SCV000703852 likely pathogenic not provided 2017-02-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000594421 SCV001962312 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing

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