ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5812-21G>A

gnomAD frequency: 0.67309  dbSNP: rs5745005
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835944 SCV000977769 benign not provided 2018-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001789391 SCV002031637 benign Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789392 SCV002031638 benign Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000835944 SCV003298109 benign not provided 2024-03-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835944 SCV005237208 benign not provided criteria provided, single submitter not provided

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