Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kariminejad - |
RCV001836708 | SCV000992250 | pathogenic | Abnormality of prenatal development or birth | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003390683 | SCV004111486 | pathogenic | GLI3-related condition | 2023-05-10 | criteria provided, single submitter | clinical testing | The GLI3 c.1927C>T variant is predicted to result in premature protein termination (p.Arg643*). This variant in the heterozygous condition was reported in individuals with postaxial polydactyly (Radhakrishna et al 1999. PubMed ID: 10441570; Kariminejad et al 2020. PubMed ID: 32112393). This variant in the homozygous condition was reported in a fetus from consanguineous family with Pallister-Hall-like syndrome (Kariminejad et al 2020. PubMed ID: 32112393). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in GLI3 are expected to be pathogenic. This variant is interpreted as pathogenic. |
OMIM | RCV000014831 | SCV000035086 | pathogenic | Postaxial polydactyly, type A1/B | 1999-09-01 | no assertion criteria provided | literature only |