ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.807C>T (p.Ala269=)

gnomAD frequency: 0.00005  dbSNP: rs148222726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001411311 SCV001613370 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001411311 SCV001814872 likely benign not provided 2020-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278539 SCV001465556 uncertain significance Neuronal ceroid lipofuscinosis 2 2020-08-14 no assertion criteria provided clinical testing

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