ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.234A>G (p.Thr78=)

dbSNP: rs1450867136
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000931309 SCV001076974 likely benign Neuronal ceroid lipofuscinosis 2023-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000931309 SCV001454736 uncertain significance Neuronal ceroid lipofuscinosis 2020-02-13 no assertion criteria provided clinical testing

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