Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001642229 | SCV001858681 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 9675109) |
Breakthrough Genomics, |
RCV001642229 | SCV005271072 | benign | not provided | criteria provided, single submitter | not provided | ||
OMIM | RCV000019203 | SCV000039491 | risk factor | Bone mineral density quantitative trait locus 15 | 1998-12-01 | no assertion criteria provided | literature only | |
Prevention |
RCV003974841 | SCV004799109 | benign | CALCR-related disorder | 2019-10-18 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |