ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.66A>T (p.Glu22Asp) (rs145529594)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000186638 SCV000151849 benign not specified 2016-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000186638 SCV000170281 benign not specified 2012-06-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000315828 SCV000447478 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000548248 SCV000639428 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715651 SCV000846481 benign Seizures 2016-03-18 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,In silico models in agreement (benign)

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