ClinVar Miner

Submissions for variant NM_001042432.2(CLN3):c.381G>C (p.Arg127=)

gnomAD frequency: 0.00001  dbSNP: rs750889321
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001465402 SCV001669387 likely benign Neuronal ceroid lipofuscinosis 2023-10-28 criteria provided, single submitter clinical testing

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