Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037402 | SCV000061059 | likely benign | not specified | 2011-08-23 | criteria provided, single submitter | clinical testing | -23_-15delGTCGCCGCC in exon 1 of LAMP2: This variant is located in the 5?untrans lated region (5?UTR) of the LAMP2 gene. It has not been reported in the literat ure but has been detected by our lab in at least 1% of individuals sequenced. A t this frequency this variant is most likely benign although we cannot exclude a modifying role. |
Gene |
RCV000157958 | SCV000207893 | benign | Danon disease; Cardiomyopathy | 2012-12-04 | criteria provided, single submitter | clinical testing | The variant is found in HCM panel(s). |
Prevention |
RCV000037402 | SCV000308814 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Integrated Genetics/Laboratory Corporation of America | RCV000030112 | SCV000052767 | benign | Primary familial hypertrophic cardiomyopathy | 2015-05-20 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000613856 | SCV000734736 | benign | Danon disease | no assertion criteria provided | clinical testing | ||
Mayo Clinic Genetic Testing Laboratories, |
RCV000675451 | SCV000801133 | likely benign | not provided | 2017-04-18 | no assertion criteria provided | clinical testing |