ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)

dbSNP: rs2287617
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730334 SCV000858063 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing
Invitae RCV000730334 SCV001051781 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001133957 SCV001293674 likely benign Progressive familial intrahepatic cholestasis type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV003947925 SCV004772834 likely benign ABCB11-related condition 2023-05-22 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. RCV001133957 SCV002077910 likely benign Progressive familial intrahepatic cholestasis type 2 2020-07-27 no assertion criteria provided clinical testing

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