ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.828-14_828-13del

gnomAD frequency: 0.00001  dbSNP: rs796052395
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187287 SCV000240869 benign not specified 2013-04-05 criteria provided, single submitter clinical testing The variant is found in EPILEPSY,CHILD-EPI panel(s).
Invitae RCV002054197 SCV002430335 likely benign Neuronal ceroid lipofuscinosis 2023-07-25 criteria provided, single submitter clinical testing

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