ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)

gnomAD frequency: 0.00006  dbSNP: rs554063452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537942 SCV000632211 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764020 SCV000894972 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159779 SCV003877686 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.6032G>A (p.R2011Q) alteration is located in exon 34 (coding exon 33) of the CACNA1H gene. This alteration results from a G to A substitution at nucleotide position 6032, causing the arginine (R) at amino acid position 2011 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691856 SCV005194084 uncertain significance not provided criteria provided, single submitter not provided

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