ClinVar Miner

Submissions for variant NM_001142966.3(GREB1L):c.5707G>A (p.Glu1903Lys)

gnomAD frequency: 0.00001  dbSNP: rs1168976920
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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 RCV001932880 SCV002195305 benign not provided 2022-07-12 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV005225542 SCV005871197 uncertain significance GREB1L-related disorder 2024-01-01 criteria provided, single submitter clinical testing PM2, PP3

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