Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001182895 | SCV001348494 | likely benign | Cardiomyopathy | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194065 | SCV001363319 | benign | not specified | 2019-11-18 | criteria provided, single submitter | clinical testing | Variant summary: MYBPC3 c.705_706delinsTG (p.Ser236Gly) results in a non-conservative amino acid change located in the Immunoglobulin-like domain of the encoded protein sequence. This delins variant involves two single nucleotide changes, 11-47370041-T-C and 11-47370042-G-A, one of which results in a synonymous change while the other results in p.Ser236Gly. p.Ser236Gly is present in the gnomad database at a high frequency (9.6%), indicating the variant to be benign. Additionally, the p.Ser236Gly variant is classified as likely benign/bening by 6 clinvar submitters after 2014, and has been classified as benign by our lab. Based on the evidence outlined above, the variant was classified as benign. |
Invitae | RCV002068340 | SCV002339153 | likely benign | Hypertrophic cardiomyopathy | 2023-12-05 | criteria provided, single submitter | clinical testing |