ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1266+4C>T

gnomAD frequency: 0.00001  dbSNP: rs777551142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001859219 SCV002236034 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833918 SCV002094820 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-02-26 no assertion criteria provided clinical testing

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