Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000730955 | SCV000858723 | pathogenic | not provided | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000017766 | SCV001524467 | pathogenic | Achondroplasia | 2020-06-03 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
OMIM | RCV000017766 | SCV000038044 | pathogenic | Achondroplasia | 2008-03-01 | no assertion criteria provided | literature only | |
OMIM | RCV000017767 | SCV000038045 | pathogenic | Hypochondroplasia | 2008-03-01 | no assertion criteria provided | literature only |