Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002069445 | SCV002373589 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002541697 | SCV003724387 | uncertain significance | Inborn genetic diseases | 2021-12-14 | criteria provided, single submitter | clinical testing | The c.1985A>G (p.Q662R) alteration is located in exon 15 (coding exon 15) of the COL7A1 gene. This alteration results from a A to G substitution at nucleotide position 1985, causing the glutamine (Q) at amino acid position 662 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003399047 | SCV004110311 | likely benign | COL7A1-related condition | 2024-01-16 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001278974 | SCV001466029 | benign | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-11-06 | no assertion criteria provided | clinical testing |