ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp)

dbSNP: rs371550084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704480 SCV000833431 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536385 SCV003687100 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.6281C>G (p.S2094W) alteration is located in exon 35 (coding exon 34) of the CACNA1H gene. This alteration results from a C to G substitution at nucleotide position 6281, causing the serine (S) at amino acid position 2094 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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