ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr)

dbSNP: rs1562976223
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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) RCV000732990 SCV000860997 uncertain significance not provided 2018-04-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001161564 SCV001323452 uncertain significance Progressive familial intrahepatic cholestasis type 3 2017-04-28 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.

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