ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) (rs144200355)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180362 SCV000232775 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764411 SCV000895468 uncertain significance Sitosterolemia; Gallbladder disease 4 2018-10-31 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000180362 SCV000987660 benign not provided criteria provided, single submitter clinical testing
Invitae RCV000180362 SCV001028260 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001137117 SCV001297021 uncertain significance Sitosterolemia 1 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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