Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000516177 | SCV000202348 | pathogenic | not provided | 2018-06-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000516177 | SCV000255669 | pathogenic | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls (http://gnomad.broadinstitute.org). In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. |
Invitae | RCV000152920 | SCV000645507 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-01-16 | criteria provided, single submitter | clinical testing | This variant, c.598_612del, results in the deletion of 5 amino acid(s) of the CAPN3 protein (p.Phe200_Leu204del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771137354, gnomAD 0.005%). This variant has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 9452114, 16141003, 18854869, 25135358). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported in individual(s) with autosomal dominant limb-girdle muscular dystrophy (PMID: 15733273); however, the role of the variant in this condition is currently unclear. ClinVar contains an entry for this variant (Variation ID: 166786). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000516177 | SCV000709910 | pathogenic | not provided | 2021-09-10 | criteria provided, single submitter | clinical testing | In-frame deletion of 5 amino acids in a non-repeat region predicted to critically alter the protein; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15733273, 15221789, 16141003, 34720847, 34863162, 30919934, 31589614, 32528171, 9452114, 33107701, 27447704, 16372320, 17236769, 10330340, 10679950, 14981715, 17994539, 15351423, 25135358, 17157502, 34426522, 16100770) |
Ce |
RCV000516177 | SCV001246428 | pathogenic | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | CAPN3: PM3:Very Strong, PM2, PM4 |
Revvity Omics, |
RCV000516177 | SCV002018054 | pathogenic | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000152920 | SCV002581151 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-10-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003474804 | SCV004211546 | pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000516177 | SCV004223990 | pathogenic | not provided | 2022-02-11 | criteria provided, single submitter | clinical testing | PP1, PP4_moderate, PM2, PM3_strong, PM4, PS4_moderate |
Natera, |
RCV000152920 | SCV001461313 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |