Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177687 | SCV000229599 | benign | not specified | 2018-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001721118 | SCV000514151 | likely benign | not provided | 2023-03-29 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Invitae | RCV000648620 | SCV000770440 | 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 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000177687 | SCV001475390 | benign | not specified | 2020-03-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001721118 | SCV003917632 | benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | PLEC: BP4, BS1, BS2 |
Prevention |
RCV003947503 | SCV004758208 | likely benign | PLEC-related condition | 2023-12-29 | 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). |