ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.705_706inv (p.Ser236Gly)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001182895 SCV001348494 likely benign Cardiomyopathy 2023-05-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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

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