ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.389+8G>A

gnomAD frequency: 0.02444  dbSNP: rs11568363
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245656 SCV000309816 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370964 SCV000418977 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000245656 SCV000518694 benign not specified 2016-02-09 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 RCV001515640 SCV001723757 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000370964 SCV001459653 benign Progressive familial intrahepatic cholestasis type 2 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000245656 SCV001807294 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000245656 SCV001929995 benign not specified no assertion criteria provided clinical testing

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