Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703711 | SCV000832625 | benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002536373 | SCV003558627 | uncertain significance | Inborn genetic diseases | 2021-05-27 | criteria provided, single submitter | clinical testing | The c.3509C>G (p.A1170G) alteration is located in exon 15 (coding exon 14) of the GLI3 gene. This alteration results from a C to G substitution at nucleotide position 3509, causing the alanine (A) at amino acid position 1170 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |