Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000538031 | SCV000634896 | benign | Epileptic encephalopathy | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003222022 | SCV003917365 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | RYR3: BS2 |
Center for Genomics, |
RCV003222022 | SCV003924156 | likely benign | not provided | 2022-04-14 | criteria provided, single submitter | clinical testing | RYR3 NM_001036.4 exon 59 p.Arg2852His (c.8555G>A): This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.8% (349/41440), including 2 homozygotes (https://gnomad.broadinstitute.org/variant/15-33756345-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:461970). This variant amino acid Histidine (His) is present in several species including multiple mammals and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign. |
Prevention |
RCV003942776 | SCV004761886 | benign | RYR3-related disorder | 2020-04-29 | no assertion criteria provided | 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). |