ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.282A>G (p.Thr94=)

gnomAD frequency: 0.00003  dbSNP: rs753828114
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 RCV000706137 SCV000835169 likely benign Neuronal ceroid lipofuscinosis 1 2025-02-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000706137 SCV002086003 uncertain significance Neuronal ceroid lipofuscinosis 1 2021-04-10 no assertion criteria provided clinical testing

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