Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000634031 | SCV000755309 | likely benign | Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome | 2023-07-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001584461 | SCV001818322 | likely benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV004025441 | SCV004876188 | uncertain significance | Inborn genetic diseases | 2023-12-11 | criteria provided, single submitter | clinical testing | The c.3079C>T (p.L1027F) alteration is located in exon 15 (coding exon 14) of the GLI3 gene. This alteration results from a C to T substitution at nucleotide position 3079, causing the leucine (L) at amino acid position 1027 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |