Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001270717 | SCV001451462 | likely pathogenic | X-linked Opitz G/BBB syndrome | 2019-03-01 | criteria provided, single submitter | clinical testing | The MID1 c.1142-1G>T variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so the variant is presumed to be rare. Based on the potential effect of splice site variants and its rarity, the c.1142-1G>T variant is classified as likely pathogenic for X-linked Opitz G/BBB syndrome. |