Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000850610 | SCV000992843 | pathogenic | Achondroplasia; Camptodactyly-tall stature-scoliosis-hearing loss syndrome; Crouzon syndrome with acanthosis nigricans; Levy-Hollister syndrome; Muenke syndrome; Thanatophoric dysplasia type 1; Thanatophoric dysplasia, type 2; Hypochondroplasia; Severe achondroplasia with developmental delay and acanthosis nigricans | 2017-12-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001334259 | SCV001527053 | pathogenic | Achondroplasia | 2018-04-30 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has not been seen in the gnomAD database (http://gnomad.broadinstitute.org/) but has been previously reported in a three-generation family with hypochondroplasia [PMID 16912704] and in a two-generation family with short stature (http://pdf.medrang.co.kr/JGM/2016/013/JGM-13-046.pdf) |
OMIM | RCV000017769 | SCV000038047 | pathogenic | Hypochondroplasia | 2006-12-01 | no assertion criteria provided | literature only | |
Gene |
RCV000017769 | SCV000087174 | pathologic | Hypochondroplasia | 2013-09-26 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |