ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1359+18C>T

gnomAD frequency: 0.00455  dbSNP: rs5744775
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411014 SCV000489015 likely benign Colorectal cancer, susceptibility to, 12 2016-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000435321 SCV000519164 likely benign not specified 2017-06-23 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.
PreventionGenetics, part of Exact Sciences RCV000435321 SCV000806717 benign not specified 2016-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003114529 SCV001733464 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488844 SCV002797339 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 2022-05-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114529 SCV003799392 benign not provided 2022-03-31 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000411014 SCV004016711 likely benign Colorectal cancer, susceptibility to, 12 2023-07-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000435321 SCV004027365 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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