ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.256C>T (p.Leu86=)

gnomAD frequency: 0.00001  dbSNP: rs755248868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390779 SCV000336082 uncertain significance not provided 2015-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086060 SCV001090265 likely benign Neuronal ceroid lipofuscinosis 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000390779 SCV002038840 uncertain significance not provided 2021-12-13 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001086060 SCV001454737 uncertain significance Neuronal ceroid lipofuscinosis 2019-10-28 no assertion criteria provided clinical testing

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