ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=)

gnomAD frequency: 0.00001  dbSNP: rs773371540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439511 SCV000525771 likely benign not specified 2016-03-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000731047 SCV000858818 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731047 SCV004525565 likely benign not provided 2024-02-23 criteria provided, single submitter clinical testing

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