Submissions for variant NM_001927.4(DES):c.736-8C>A

gnomAD frequency: 0.00021  dbSNP: rs140375681

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000711440	SCV000565986	uncertain significance	not provided	2023-03-14	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Located in a region that tolerates variation and lacks pathogenic variants; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Invitae	RCV001088745	SCV000654179	likely benign	Desmin-related myofibrillar myopathy	2023-12-21	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000482297	SCV000710896	likely benign	not specified	2019-01-18	criteria provided, single submitter	clinical testing	proposed classification - variant undergoing re-assessment, contact laboratory
Athena Diagnostics Inc	RCV000711440	SCV000841806	uncertain significance	not provided	2017-12-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000711440	SCV000859568	uncertain significance	not provided	2018-02-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000482297	SCV002572046	benign	not specified	2022-08-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150237	SCV003838705	likely benign	Cardiomyopathy	2021-09-23	criteria provided, single submitter	clinical testing