ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) (rs60720055)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715331 SCV000846160 benign Seizures 2016-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000116311 SCV000150229 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000314887 SCV000743972 benign Pyridoxine-dependent epilepsy 2017-01-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314887 SCV000452315 likely benign Pyridoxine-dependent epilepsy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000314887 SCV000561550 benign Pyridoxine-dependent epilepsy 2017-08-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116311 SCV000306970 benign not specified criteria provided, single submitter clinical testing

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