Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, |
RCV001095539 | SCV001251041 | likely pathogenic | Spinal muscular atrophy, distal, autosomal recessive, 1 | 2020-03-31 | criteria provided, single submitter | research | |
OMIM | RCV001095539 | SCV000029901 | pathogenic | Spinal muscular atrophy, distal, autosomal recessive, 1 | 2001-09-01 | no assertion criteria provided | literature only | |
Institute of Human Genetics, |
RCV000664227 | SCV000787792 | pathogenic | Charcot-Marie-Tooth disease, axonal, type 2S | 2018-04-25 | no assertion criteria provided | clinical testing |