ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.297C>T (p.Phe99=)

gnomAD frequency: 0.00001  dbSNP: rs776598152
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002212465 SCV002360206 likely benign Neuronal ceroid lipofuscinosis 2025-01-08 criteria provided, single submitter clinical testing

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