Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000287178 | SCV000482980 | benign | Charcot-Marie-Tooth disease, type I | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000325790 | SCV000482981 | benign | Congenital hypomyelinating neuropathy 1, autosomal recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000382819 | SCV000482982 | benign | Roussy-Lévy syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000290768 | SCV000482983 | benign | Charcot-Marie-Tooth, Intermediate | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000325790 | SCV000482984 | benign | Congenital hypomyelinating neuropathy 1, autosomal recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000406625 | SCV000482985 | benign | Pheochromocytoma | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000662850 | SCV000785717 | benign | Paragangliomas 3 | 2017-11-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000114 | SCV001156544 | benign | not specified | 2019-02-06 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001101380 | SCV001257984 | benign | Hereditary Paraganglioma-Pheochromocytoma Syndromes | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |