Submissions for variant NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=)

gnomAD frequency: 0.00199  dbSNP: rs75158917

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088274	SCV000285608	benign	Brugada syndrome	2025-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000245353	SCV000318606	likely benign	Cardiovascular phenotype	2016-02-09	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.
GeneDx	RCV000710355	SCV000534042	likely benign	not provided	2021-04-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710355	SCV000840558	benign	not provided	2017-10-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710355	SCV004162360	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CACNA2D1: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center	RCV000427711	SCV001920029	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710355	SCV001928829	likely benign	not provided		no assertion criteria provided	clinical testing