ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.420G>T (p.Ala140=)

gnomAD frequency: 0.00004  dbSNP: rs568985915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495232 SCV001699904 likely benign Neuronal ceroid lipofuscinosis 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001655735 SCV001869176 likely benign not provided 2019-07-31 criteria provided, single submitter clinical testing

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