ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.582G>T (p.Leu194=)

dbSNP: rs386833734
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049697 SCV000220866 likely benign Neuronal ceroid lipofuscinosis 3 2014-11-07 criteria provided, single submitter literature only
Invitae RCV001079185 SCV001124985 likely benign Neuronal ceroid lipofuscinosis 2023-10-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000977073 SCV001143612 likely benign not provided 2018-11-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003964906 SCV004783922 likely benign CLN3-related disorder 2022-02-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049697 SCV000082104 probable-pathogenic Neuronal ceroid lipofuscinosis 3 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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