Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000006062 | SCV000026244 | pathogenic | Cold-induced sweating syndrome 1 | 2007-05-01 | no assertion criteria provided | literature only | |
Gene |
RCV000006062 | SCV001806771 | not provided | Cold-induced sweating syndrome 1 | no assertion provided | literature only | Founder variant in Sardinia, the variants c.226T>G and c.676dupA together are the most common in Sardinia, with a joint carrier frequency of 1.4%. |