ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3874-4522A>G (rs895394181)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597152 SCV000705855 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing
Counsyl RCV000665784 SCV000789957 uncertain significance Cystic fibrosis 2017-02-28 criteria provided, single submitter clinical testing
CFTR-France RCV001009398 SCV001169251 pathogenic Cystic fibrosis; CFTR-related disorders 2018-01-29 criteria provided, single submitter curation when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD
Invitae RCV000665784 SCV001589605 pathogenic Cystic fibrosis 2020-09-24 criteria provided, single submitter clinical testing This sequence change falls in intron 23 of the CFTR gene. It does not directly change the encoded amino acid sequence of the CFTR protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with cystic fibrosis (PMID: 21909392, 30389601). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 4005+5727A>G. ClinVar contains an entry for this variant (Variation ID: 500071). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 30389601). For these reasons, this variant has been classified as Pathogenic.

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