ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)

gnomAD frequency: 0.00039  dbSNP: rs144848376
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174741 SCV000226103 benign not specified 2015-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000902658 SCV000527605 likely benign not provided 2018-04-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19101985, 23279303, 16290310)
Labcorp Genetics (formerly Invitae), Labcorp RCV000902658 SCV001047089 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001130293 SCV001289867 benign Progressive familial intrahepatic cholestasis type 2 2017-05-04 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV001130293 SCV002077902 likely benign Progressive familial intrahepatic cholestasis type 2 2019-12-09 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003907565 SCV004726935 benign ABCB11-related disorder 2019-10-03 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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