Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891919 | SCV000309864 | benign | SQSTM1-related condition | 2019-10-16 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Illumina Laboratory Services, |
RCV000353810 | SCV000456919 | likely benign | Paget disease of bone 3 | 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV001086021 | SCV000655615 | benign | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713548 | SCV000844170 | benign | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000713548 | SCV001896798 | benign | not provided | 2020-08-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32036052, 31859009, 31434890, 24899140, 22084127) |