ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) (rs150418024)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188179 SCV000241786 benign not specified 2018-03-08 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 RCV001080724 SCV000639417 benign Neuronal ceroid lipofuscinosis 7 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718763 SCV000849627 uncertain significance Seizures 2018-01-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732335 SCV000860283 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000732335 SCV000892401 likely pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001080724 SCV001307856 uncertain significance Neuronal ceroid lipofuscinosis 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000149771 SCV000196584 pathogenic Macular dystrophy with central cone involvement 2015-01-01 no assertion criteria provided literature only

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