Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000243499 | SCV000317005 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000243499 | SCV000334297 | likely benign | not specified | 2015-09-14 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000430046 | SCV000511758 | likely benign | not provided | 2016-12-30 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Genetic Services Laboratory, |
RCV000243499 | SCV000593068 | likely benign | not specified | 2017-02-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000557729 | SCV000653869 | benign | Congenital myasthenic syndrome 8 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000430046 | SCV000840719 | benign | not provided | 2018-07-20 | criteria provided, single submitter | clinical testing | |
SIB Swiss Institute of Bioinformatics | RCV000557729 | SCV000883240 | benign | Congenital myasthenic syndrome 8 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Benign, for Myasthenic syndrome, congenital, 8, autosomal recessive. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. |
Gene |
RCV000430046 | SCV001846291 | benign | not provided | 2019-08-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27378695) |
Ce |
RCV000430046 | SCV004126864 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | AGRN: BS2 |