Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494312 | SCV000582107 | likely pathogenic | not provided | 2015-07-30 | criteria provided, single submitter | clinical testing | The c.1052+5 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. Several in-silico splice prediction models predict that c.1052+5 G>A damages the splice donor site of intron 6 which may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded. |
Counsyl | RCV000671868 | SCV000796898 | uncertain significance | Renal carnitine transport defect | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000671868 | SCV002055763 | uncertain significance | Renal carnitine transport defect | 2021-07-15 | criteria provided, single submitter | clinical testing |