ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3411+10G>A (rs188996270)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731990 SCV000859864 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV000731990 SCV001058325 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001135195 SCV001294969 likely benign Progressive familial intrahepatic cholestasis 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Natera, Inc. RCV001135195 SCV001458320 uncertain significance Progressive familial intrahepatic cholestasis 2 2019-10-28 no assertion criteria provided clinical testing

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