Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000512847 | SCV000609322 | uncertain significance | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648517 | SCV000770337 | likely benign | Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000512847 | SCV000970083 | likely benign | not provided | 2020-09-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002524973 | SCV003728870 | uncertain significance | Inborn genetic diseases | 2022-10-26 | criteria provided, single submitter | clinical testing | The c.13066C>T (p.R4356C) alteration is located in exon 33 (coding exon 32) of the PLEC gene. This alteration results from a C to T substitution at nucleotide position 13066, causing the arginine (R) at amino acid position 4356 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000512847 | SCV003815612 | uncertain significance | not provided | 2022-08-30 | criteria provided, single submitter | clinical testing |