ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.819C>T (p.Thr273=)

gnomAD frequency: 0.00150  dbSNP: rs72552033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080190 SCV000632245 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711133 SCV000841461 benign not provided 2017-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506319 SCV002805468 benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711133 SCV004133623 benign not provided 2023-03-01 criteria provided, single submitter clinical testing CACNA1H: BS1, BS2

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