Submissions for variant NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)

gnomAD frequency: 0.00715  dbSNP: rs41292285

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000543928	SCV000632123	benign	Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	2025-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711085	SCV000841412	benign	not provided	2019-06-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711085	SCV001149631	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	CACNA1H: BS1, BS2
GeneDx	RCV000711085	SCV001824311	likely benign	not provided	2020-06-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17696120, 25525159, 26706850)
Breakthrough Genomics, Breakthrough Genomics	RCV000711085	SCV005216872	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000711085	SCV001798192	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000711085	SCV001927668	likely benign	not provided		no assertion criteria provided	clinical testing