ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1680-870T>A (rs213965)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000046408 SCV000074421 benign Cystic fibrosis 2014-12-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150338 SCV000197441 benign not specified 2014-02-06 criteria provided, single submitter clinical testing 1680-870T>A in intron 12 of CFTR: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. The A allele is the major allele but the frequency of the T allele is hig h enough to rule out a role in disease (A = 94.3%; 166/176 and T = 5.7% , 10/1 76 Yoruban chromosomes, 1000 Genomes Project ( cts/SNP; dbSNP rs213965).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759029 SCV000888070 benign not provided 2018-04-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000150338 SCV001157196 benign not specified 2018-08-24 criteria provided, single submitter clinical testing
CFTR-France RCV000046408 SCV001169188 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither

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