ClinVar Miner

Submissions for variant NM_018941.4(CLN8):c.288G>A (p.Ala96=)

gnomAD frequency: 0.00003  dbSNP: rs533351136
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866287 SCV001007364 likely benign Neuronal ceroid lipofuscinosis 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495258 SCV002794883 likely benign Neuronal ceroid lipofuscinosis 8 northern epilepsy variant; Neuronal ceroid lipofuscinosis 8 2021-07-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279442 SCV001466537 uncertain significance Neuronal ceroid lipofuscinosis 8 2020-10-27 no assertion criteria provided clinical testing

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