ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.678C>T (p.Thr226=)

gnomAD frequency: 0.00005  dbSNP: rs374744816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842201 SCV000984200 likely benign not provided 2018-04-18 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 RCV001083700 SCV001006879 likely benign Neuronal ceroid lipofuscinosis 2024-10-22 criteria provided, single submitter clinical testing

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