Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000292216 | SCV000453116 | likely benign | Marinesco-Sjögren syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000516209 | SCV000615273 | likely benign | not specified | 2021-05-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000516209 | SCV000729990 | benign | not specified | 2017-09-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000292216 | SCV001014622 | benign | Marinesco-Sjögren syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000292216 | SCV001136982 | likely benign | Marinesco-Sjögren syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV001258232 | SCV001435138 | benign | X-linked intellectual disability-short stature-overweight syndrome | criteria provided, single submitter | research | The homozygous p.Arg92Trp variant in SIL1 has been identified in 6 Pakistani relatives from 1 family with Marinesco-Sjogren syndrome (PMID: 19471582), but has also been identified in >3% of South Asian chromosomes and 14 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive Marinesco-Sjogren syndrome. | |
Fulgent Genetics, |
RCV000292216 | SCV002801206 | likely benign | Marinesco-Sjögren syndrome | 2022-05-12 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003437116 | SCV004164224 | benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | SIL1: BS1, BS2 |