Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000671145 | SCV003213777 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2022-05-13 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 555343). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.714_719del, results in the deletion of 2 amino acid(s) of the SGCG protein (p.Asp238_Ala239del), but otherwise preserves the integrity of the reading frame. |
| Counsyl | RCV000671145 | SCV000796095 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2017-12-01 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |