ClinVar Miner

Submissions for variant NM_152542.5(PPM1K):c.339C>T (p.Phe113=)

gnomAD frequency: 0.00759  dbSNP: rs116564150
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 RCV000529801 SCV000653525 benign Maple syrup urine disease, mild variant 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717661 SCV005301298 benign not provided criteria provided, single submitter not provided

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