ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)

gnomAD frequency: 0.00086  dbSNP: rs61056448
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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 RCV001085718 SCV000632087 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711062 SCV000841389 benign not provided 2018-03-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711062 SCV005296413 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV000709893 SCV000840234 not provided Epilepsy, childhood absence, susceptibility to, 6 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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