Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037350 | SCV000061007 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | c.2472+15G>T in Intron 19 of LAMA4: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence an d has been identified in 0.6% (23/3738) of African American chromosomes from a b road population by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS; dbSNP rs77901141). |
Gene |
RCV001703879 | SCV000513438 | likely benign | not provided | 2018-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054656 | SCV002418643 | benign | Dilated cardiomyopathy 1JJ | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002054656 | SCV002799810 | likely benign | Dilated cardiomyopathy 1JJ | 2022-02-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002054656 | SCV004563381 | benign | Dilated cardiomyopathy 1JJ | 2023-09-06 | criteria provided, single submitter | clinical testing |