Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588528 | SCV000698527 | pathogenic | Cystinosis | 2017-02-02 | criteria provided, single submitter | clinical testing | Variant summary: The CTNS c.853-2A>G variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 4/4 splice prediction tools predict the complete loss of a canonical 5' splice acceptor site. These predictions have been confired by functional studies showing patient RNA having a transcript that contains the first 41bp of IVS10 and a deletion of the first 26 bp of exon11. This variant is absent in 118932 control chromosomes but has been reported in a severely affected proband in the literature. Taken together, this variant is classified as pathogenic. |
Counsyl | RCV000666666 | SCV000790995 | likely pathogenic | Nephropathic cystinosis | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000666666 | SCV004212951 | pathogenic | Nephropathic cystinosis | 2023-09-17 | criteria provided, single submitter | clinical testing |