ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.157G>A (p.Gly53Arg)

gnomAD frequency: 0.00152  dbSNP: rs148252800
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 RCV000881167 SCV001024319 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881167 SCV005909706 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing PDGFB: BP4

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