Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000204678 | SCV000261372 | benign | Hereditary spastic paraplegia 2 | 2015-10-20 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514040 | SCV000610952 | likely benign | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000514040 | SCV000843294 | benign | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Broad Institute Rare Disease Group, |
RCV001258262 | SCV001435182 | benign | Pelizaeus-Merzbacher disease | criteria provided, single submitter | research | The hemizygous c.-31C>T variant in PLP1 has been identified in a Japanese individual with Perlizaeus-Merzbacher disease (PMID: 8723686), and has been identified in >2% of East Asian chromosomes, 61 hemizygotes, and 1 homozygote by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for X-linked recessive Perlizaeus-Merzbacher disease. |