ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.720+16T>C

gnomAD frequency: 0.00004  dbSNP: rs200320553
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412057 SCV000489371 likely benign Colorectal cancer, susceptibility to, 12 2016-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000424266 SCV000521716 likely benign not specified 2017-10-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003657758 SCV002387857 likely benign not provided 2025-01-26 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000424266 SCV002550207 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480261 SCV002804237 likely benign Colorectal cancer, susceptibility to, 12; Facial dysmorphism-immunodeficiency-livedo-short stature syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 2022-05-04 criteria provided, single submitter clinical testing

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