ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.1311C>G (p.Ser437=) (rs145453022)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126765 SCV000170278 benign not specified 2013-01-29 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 RCV000301452 SCV000447466 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000477277 SCV000559619 benign Ceroid lipofuscinosis neuronal 7 2017-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720284 SCV000851161 likely benign Seizures 2016-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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