ClinVar Miner

Submissions for variant NM_000310.4(PPT1):c.*529_*530insGTCA

dbSNP: rs1553166030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671312 SCV000796274 uncertain significance Neuronal ceroid lipofuscinosis 1 2017-12-06 criteria provided, single submitter clinical testing

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