Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001146011 | SCV001306724 | uncertain significance | Epidermolysis bullosa dystrophica | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Labcorp Genetics |
RCV002070765 | SCV002480962 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004032743 | SCV004930051 | uncertain significance | Inborn genetic diseases | 2024-01-24 | criteria provided, single submitter | clinical testing | The c.7217C>T (p.P2406L) alteration is located in exon 94 (coding exon 94) of the COL7A1 gene. This alteration results from a C to T substitution at nucleotide position 7217, causing the proline (P) at amino acid position 2406 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001278924 | SCV001465970 | uncertain significance | Epidermolysis bullosa dystrophica inversa, autosomal recessive | 2020-08-14 | no assertion criteria provided | clinical testing |