Submissions for variant NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)

gnomAD frequency: 0.00079  dbSNP: rs150572999

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000318703	SCV000332912	benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001133840	SCV001293554	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.
Invitae	RCV001413506	SCV001615623	likely benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001413506	SCV004224996	uncertain significance	not provided	2022-06-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939953	SCV004764528	likely benign	ABCB11-related disorder	2022-02-04	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).