ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=)

gnomAD frequency: 0.00045  dbSNP: rs373620549
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000890949 SCV001034731 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-07-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487953 SCV002802668 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392680 SCV004133670 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003392680 SCV005296938 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004541823 SCV004780900 likely benign CACNA1H-related disorder 2021-11-01 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).

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