Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825180 | SCV000966454 | likely benign | not specified | 2018-03-14 | criteria provided, single submitter | clinical testing | c.946-13C>T in intron 8 of LAMA4: This variant is classified as likely benign be cause a C>T change at this position does not diverge from the splice consensus s equence and is therefore unlikely to impact splicing. It has been identified in 0.02% (5/24030) of African chromosomes by the Genome Aggregation Database (gnomA D, http://gnomad.broadinstitute.org; dbSNP rs782148493). ACMG/AMP Criteria appli ed: BP4; BP7. |
Invitae | RCV003581733 | SCV004271524 | likely benign | Dilated cardiomyopathy 1JJ | 2023-09-04 | criteria provided, single submitter | clinical testing |