ClinVar Miner

Submissions for variant NM_152778.3(MFSD8):c.978A>G (p.Gly326=) (rs138219028)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720333 SCV000851210 likely benign Seizures 2016-08-30 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV000866824 SCV001007969 likely benign Neuronal ceroid lipofuscinosis 7 2019-12-31 criteria provided, single submitter clinical testing

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