ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)

dbSNP: rs200087122
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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) RCV000401723 SCV000345966 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000401723 SCV001023288 likely benign not provided 2024-03-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001130869 SCV001290464 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV004021326 SCV004897478 likely benign Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001130869 SCV001458324 likely benign Progressive familial intrahepatic cholestasis type 2 2020-05-31 no assertion criteria provided clinical testing

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