ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.1053T>C (p.Gly351=)

gnomAD frequency: 0.00001  dbSNP: rs1035964173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001416150 SCV001618322 likely benign not provided 2024-03-06 criteria provided, single submitter clinical testing
GeneDx RCV001416150 SCV001810890 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing

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