Submissions for variant NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)

gnomAD frequency: 0.00080  dbSNP: rs151247098

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724834	SCV000331979	uncertain significance	not provided	2017-01-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000724834	SCV000572980	uncertain significance	not provided	2023-10-20	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV001079056	SCV001016408	likely benign	Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant	2024-01-19	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000332066	SCV001145925	likely benign	not specified	2020-12-22	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001331541	SCV001523602	uncertain significance	Autosomal recessive ataxia, Beauce type	2019-11-06	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000724834	SCV001797483	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724834	SCV001964562	likely benign	not provided		no assertion criteria provided	clinical testing