ClinVar Miner

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

gnomAD frequency: 0.00715  dbSNP: rs41292285
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543928 SCV000632123 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc 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 2024-02-01 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)
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

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