ClinVar Miner

Submissions for variant NM_000285.4(PEPD):c.183C>T (p.Thr61=)

gnomAD frequency: 0.00009  dbSNP: rs560782839
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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 RCV001730242 SCV002358056 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001730242 SCV001978092 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001730242 SCV001978530 likely benign not provided no assertion criteria provided clinical testing

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