ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.408C>T (p.Ser136=)

gnomAD frequency: 0.00092  dbSNP: rs183214630
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726407 SCV000344444 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000278769 SCV000722941 likely benign not specified 2017-10-02 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.
Invitae RCV000726407 SCV001054129 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001135476 SCV001295258 likely benign Progressive familial intrahepatic cholestasis type 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000726407 SCV002063926 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949942 SCV004762598 likely benign ABCB11-related disorder 2021-01-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001135476 SCV001462449 likely benign Progressive familial intrahepatic cholestasis type 2 2020-01-12 no assertion criteria provided clinical testing

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