ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2818A>G (p.Met940Val)

gnomAD frequency: 0.00005  dbSNP: rs148382941
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235528 SCV000293857 uncertain significance not provided 2024-11-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23292937, 28873162, 26580448, 20951805)
Labcorp Genetics (formerly Invitae), Labcorp RCV000235528 SCV000544038 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003592 SCV005633732 uncertain significance Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2024-02-20 criteria provided, single submitter clinical testing

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