ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.*521_*532dup

dbSNP: rs1553166026
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669557 SCV000794320 uncertain significance Neuronal ceroid lipofuscinosis 1 2017-09-21 criteria provided, single submitter clinical testing

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