Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Reproductive Endocrine Unit, |
RCV001090067 | SCV001245468 | likely pathogenic | Martsolf syndrome | 2020-02-01 | criteria provided, single submitter | research | The c.387-2A>G variant has a frequency of 4.1E-06 in gnomAD and four independent splice prediction programs (BDGP, ASSP, Mutation Taster, and Human Splicing Finder) categorized this variant as deleterious secondary to a splicing defect. The phase of this variant is not known. |