ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8325G>A (p.Gly2775=) (rs770719841)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197236 SCV000252938 likely benign Familial adenomatous polyposis 1 2020-10-20 criteria provided, single submitter clinical testing
Counsyl RCV000197236 SCV000488668 likely benign Familial adenomatous polyposis 1 2016-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563201 SCV000667279 likely benign Hereditary cancer-predisposing syndrome 2015-06-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000563201 SCV000681919 likely benign Hereditary cancer-predisposing syndrome 2016-10-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759450 SCV000888777 benign not provided 2018-02-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000501084 SCV001437323 likely benign not specified 2020-09-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000197236 SCV000591220 likely benign Familial adenomatous polyposis 1 no assertion criteria provided clinical testing The p.Gly2775Gly variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. However, this variant has not been previously reported in the literature nor by our laboratory. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign.

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