Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866481 | SCV001007585 | likely benign | not provided | 2018-03-22 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001159591 | SCV001321313 | likely benign | Distal hereditary motor neuronopathy type 2B | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Clinical Services Laboratory, |
RCV001164524 | SCV001326657 | likely benign | Charcot-Marie-Tooth disease axonal type 2F | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |