ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.573A>G (p.Thr191=) (rs115275192)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117618 SCV000151848 benign not specified 2013-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000117618 SCV000170273 benign not specified 2012-10-26 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 RCV000675988 SCV000291533 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117618 SCV000316244 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264042 SCV000447474 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717058 SCV000847904 benign Seizures 2016-04-15 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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675988 SCV000801720 likely benign not provided 2017-04-19 no assertion criteria provided clinical testing

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