ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.240G>A (p.Thr80=) (rs373911322)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000178827 SCV000230989 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
GeneDx RCV001701543 SCV000522184 benign not provided 2020-03-05 criteria provided, single submitter clinical testing
Invitae RCV000632759 SCV000753945 benign Neuronal ceroid lipofuscinosis 2020-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001121030 SCV001279576 likely benign Neuronal ceroid lipofuscinosis 3 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Clinical Genetics,Academic Medical Center RCV000178827 SCV001923419 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701543 SCV001929440 likely benign not provided no assertion criteria provided clinical testing

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