ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.360G>A (p.Ala120=) (rs1800077)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585052 SCV000693250 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855619 SCV000696977 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000585052 SCV000700457 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV001086348 SCV001011201 likely benign Cystic fibrosis 2020-10-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000855619 SCV001159201 likely benign not specified 2018-07-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163271 SCV001325294 uncertain significance CFTR-related disorders 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). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000585052 SCV001470499 likely benign not provided 2020-06-23 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001086348 SCV001821995 likely benign Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing

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