ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)

gnomAD frequency: 0.00006  dbSNP: rs762288499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702556 SCV000831414 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480790 SCV004224571 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing BS2

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