ClinVar Miner

Submissions for variant NM_000285.4(PEPD):c.858C>T (p.Ser286=)

gnomAD frequency: 0.00013  dbSNP: rs375354020
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001965522 SCV002241780 likely benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492140 SCV002796582 likely benign Prolidase deficiency 2022-04-11 criteria provided, single submitter clinical testing

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