ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.727-10T>G

dbSNP: rs554894547
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
Invitae RCV001277581 SCV001695448 likely benign Neuronal ceroid lipofuscinosis 1 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277581 SCV001464541 benign Neuronal ceroid lipofuscinosis 1 2020-09-15 no assertion criteria provided clinical testing

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