ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) (rs28413664)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116522 SCV000523116 benign not specified 2016-02-01 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 RCV000710944 SCV000656742 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710944 SCV000841257 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716183 SCV000847020 benign History of neurodevelopmental disorder 2016-04-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000116522 SCV000150471 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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