ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.648C>T (p.Phe216=)

dbSNP: rs564074916
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725017 SCV000333264 uncertain significance not provided 2015-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000331844 SCV000517038 likely benign not specified 2016-03-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085032 SCV001006546 benign Neuronal ceroid lipofuscinosis 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365298 SCV002659132 likely benign Inborn genetic diseases 2018-01-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001085032 SCV001454742 uncertain significance Neuronal ceroid lipofuscinosis 2020-01-24 no assertion criteria provided clinical testing

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