ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) (rs117400534)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200334 SCV000253286 likely benign Cystic fibrosis 2020-12-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588931 SCV000696987 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163790 SCV001325864 uncertain significance CFTR-related disorders 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.

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