ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.230-8C>A

gnomAD frequency: 0.00001  dbSNP: rs537703785
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002563999 SCV001414415 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835101 SCV002094879 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-08-31 no assertion criteria provided clinical testing

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