Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733932 | SCV000862037 | uncertain significance | not provided | 2018-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001207788 | SCV001379155 | likely benign | Saldino-Mainzer syndrome | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003392573 | SCV004118928 | uncertain significance | IFT140-related condition | 2022-12-31 | criteria provided, single submitter | clinical testing | The IFT140 c.2504C>T variant is predicted to result in the amino acid substitution p.Ala835Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.045% of alleles in individuals of South Asian descent in gnomAD and in this population there are two homozygotes (http://gnomad.broadinstitute.org/variant/16-1576693-G-A). Therefore, we suspect this variant is benign. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |