Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672764 | SCV000797902 | likely pathogenic | Cystic fibrosis | 2018-02-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001004433 | SCV001163478 | pathogenic | Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation | criteria provided, single submitter | clinical testing | ||
Johns Hopkins Genomics, |
RCV000672764 | SCV001425431 | pathogenic | Cystic fibrosis | 2020-02-19 | criteria provided, single submitter | clinical testing | This variant has been previously identified in patients with cystic fibrosis and is classified as likely pathogenic by one ClinVar submitter. It (rs397508734) is rare (<0.1%) in a large population dataset ( gnomAD: 4/249200 total alleles; 0.002%; no homozygotes). Bioinformatic analysis predicts that this canonical splice site variant would affect normal exon 4 splicing, although this has not been confirmed experimentally to our knowledge. We consider this variant to be pathogenic. |