ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=)

dbSNP: rs1057521708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417474 SCV000524140 likely benign not specified 2016-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001459538 SCV001663381 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-05-31 criteria provided, single submitter clinical testing

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