Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003438647 | SCV004149558 | uncertain significance | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | MASP1: PM2 |
Ambry Genetics | RCV004639426 | SCV005135389 | uncertain significance | Inborn genetic diseases | 2024-03-25 | criteria provided, single submitter | clinical testing | The c.1927G>A (p.V643I) alteration is located in exon 11 (coding exon 11) of the MASP1 gene. This alteration results from a G to A substitution at nucleotide position 1927, causing the valine (V) at amino acid position 643 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Breakthrough Genomics, |
RCV003438647 | SCV005189923 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Genetics and Genomics Program, |
RCV001199400 | SCV001134951 | uncertain significance | Hypertrophic cardiomyopathy | no assertion criteria provided | research |