ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln)

gnomAD frequency: 0.00003  dbSNP: rs371656014
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732397 SCV000860354 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001131007 SCV001290607 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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