ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) (rs16049)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116529 SCV000230674 benign not specified 2016-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000116529 SCV000519205 benign not specified 2016-01-13 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.
Invitae RCV000554807 SCV000656784 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-07-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716606 SCV000847448 benign History of neurodevelopmental disorder 2016-06-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116529 SCV000150480 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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