ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.696A>G (p.Thr232=)

dbSNP: rs1337045486
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 RCV001401764 SCV001603595 likely benign Neuronal ceroid lipofuscinosis 2024-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826198 SCV002083189 likely benign Neuronal ceroid lipofuscinosis 8 2021-08-23 no assertion criteria provided clinical testing

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