ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5553-43T>C

gnomAD frequency: 0.68901  dbSNP: rs5744970
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000835939 SCV000977764 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 RCV001789389 SCV002031639 benign Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789390 SCV002031640 benign Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000835939 SCV005237218 benign not provided criteria provided, single submitter not provided

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