ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=)

gnomAD frequency: 0.00010  dbSNP: rs58033848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085322 SCV000632177 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711105 SCV000841432 benign not provided 2017-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497094 SCV002807639 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-06 criteria provided, single submitter clinical testing

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