Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514570 | SCV000609910 | benign | not provided | 2017-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000191969 | SCV000657508 | benign | Brown-Vialetto-van Laere syndrome 1 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000604517 | SCV000732042 | benign | not specified | 2017-12-11 | criteria provided, single submitter | clinical testing | p.Leu350Met in exon 3 of SLC52A3: This variant is not expected to have clinical significance because it has been identified in 5.3% (1269/24028) of African chro mosomes, including 40 homozygous individuals, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs76947760). ACMG/AMP criteria applied: BA1, BP2, BP4, BP5. |
Mendelics | RCV000191969 | SCV001142177 | likely benign | Brown-Vialetto-van Laere syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514570 | SCV001901691 | benign | not provided | 2018-08-03 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000514570 | SCV002506053 | benign | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000191969 | SCV000246224 | not provided | Brown-Vialetto-van Laere syndrome 1 | no assertion provided | literature only |