Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036844 | SCV000060499 | likely benign | not specified | 2011-05-05 | criteria provided, single submitter | clinical testing | Ala116Ala in exon 6 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction. |
Invitae | RCV001506171 | SCV001711086 | likely benign | Myofibrillar myopathy 4 | 2023-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636622 | SCV001848100 | likely benign | not provided | 2019-04-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001636622 | SCV003916615 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | LDB3: BP4, BP7 |