Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001155106 | SCV001316512 | likely benign | Hirschsprung disease, susceptibility to, 3 | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Ambry Genetics | RCV002557327 | SCV003658249 | uncertain significance | Inborn genetic diseases | 2021-10-14 | criteria provided, single submitter | clinical testing | The c.292G>T (p.A98S) alteration is located in exon 3 (coding exon 2) of the GDNF gene. This alteration results from a G to T substitution at nucleotide position 292, causing the alanine (A) at amino acid position 98 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |