ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.243G>A (p.Ser81=)

gnomAD frequency: 0.00006  dbSNP: rs532410241
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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 RCV002082502 SCV002325248 likely benign Neuronal ceroid lipofuscinosis 2025-01-22 criteria provided, single submitter clinical testing

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