ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3970-5G>A

gnomAD frequency: 0.00036  dbSNP: rs202115678
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078954 SCV000632149 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711093 SCV000841420 benign not provided 2017-12-30 criteria provided, single submitter clinical testing

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