ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.199-8T>C (rs112721309)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126758 SCV000170271 benign not specified 2013-01-04 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 RCV000286443 SCV000447477 uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468187 SCV000559618 benign Ceroid lipofuscinosis neuronal 7 2017-12-07 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675989 SCV000801721 likely benign not provided 2017-11-17 no assertion criteria provided clinical testing

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