ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.887-8_887-6del

dbSNP: rs35039601
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000675459 SCV001867142 benign not provided 2019-08-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675459 SCV000801144 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000675459 SCV001798742 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703231 SCV001930014 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001829887 SCV002094845 benign Neuronal ceroid lipofuscinosis 2 2019-09-25 no assertion criteria provided clinical testing

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