Submissions for variant NM_203446.3(SYNJ1):c.*728C>T

gnomAD frequency: 0.00284  dbSNP: rs2230767

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084764	SCV000660161	likely benign	Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53	2024-01-24	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713734	SCV000844363	likely benign	not provided	2018-04-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000713734	SCV001790490	likely benign	not provided	2021-01-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32557143)
Ambry Genetics	RCV002527959	SCV003703509	likely benign	Inborn genetic diseases	2022-01-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000713734	SCV004153092	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SYNJ1: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003952906	SCV004774286	likely benign	SYNJ1-related disorder	2020-01-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).