Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000948712 | SCV001094934 | likely benign | not provided | 2018-06-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004029793 | SCV004896537 | uncertain significance | not specified | 2022-10-28 | criteria provided, single submitter | clinical testing | The c.1154-5C>A intronic alteration consists of a C to A substitution 5 nucleotides before coding exon 12 in the LARS gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |