Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000317087 | SCV000334973 | pathogenic | not provided | 2015-09-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001330286 | SCV001521925 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 2019-11-05 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |