ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) (rs201991581)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710976 SCV000529279 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Invitae RCV000653347 SCV000775226 likely benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-10-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710976 SCV000841292 benign not provided 2018-06-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116531 SCV000150482 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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