ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1407A>G (p.Pro469=)

gnomAD frequency: 0.00004  dbSNP: rs750546113
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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
GeneDx RCV001610944 SCV001836593 benign not provided 2016-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001610944 SCV003296172 likely benign not provided 2025-01-17 criteria provided, single submitter clinical testing

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