Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wangler Lab, |
RCV000855536 | SCV000994857 | pathogenic | Visceral myopathy 1 | 2019-09-30 | criteria provided, single submitter | case-control | The p.R63Q was seen in 3 individuals with visceral myopathy in the BCM MMIHS cohort as of September 2019. One was de novo, one family was maternally inherited and the mother exhibited uterine atony, and the other variant's inheritance could not be determined. The p.R63G variant in ACTG2 is also pathogenic. |
OMIM | RCV001535810 | SCV001752409 | pathogenic | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 2021-07-15 | no assertion criteria provided | literature only |