ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.693C>T (p.Leu231=)

gnomAD frequency: 0.00002  dbSNP: rs376590377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894808 SCV001038815 likely benign Neuronal ceroid lipofuscinosis 2023-11-18 criteria provided, single submitter clinical testing
GeneDx RCV002264990 SCV002546593 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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