ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.1268C>T (p.Ala423Val) (rs3733319)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000117617 SCV000170276 benign not specified 2013-06-05 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.
PreventionGenetics,PreventionGenetics RCV000117617 SCV000316243 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367877 SCV000447467 likely benign Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715178 SCV000846006 benign Seizures 2016-03-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117617 SCV000151847 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675986 SCV000801718 benign not provided 2015-12-16 no assertion criteria provided clinical testing

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