ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=)

gnomAD frequency: 0.00610  dbSNP: rs59297244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085216 SCV000632216 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711125 SCV000841453 benign not provided 2017-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490988 SCV002798383 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-08-09 criteria provided, single submitter clinical testing

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