Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178672 | SCV000230797 | uncertain significance | not provided | 2015-03-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001451553 | SCV001655185 | likely benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002517742 | SCV003564387 | uncertain significance | Inborn genetic diseases | 2021-03-23 | criteria provided, single submitter | clinical testing | The c.6523-6T>C intronic alteration consists of a T to C substitution 6 nucleotides before exon 48 (coding exon 47) of the CEP290 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |