ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.-7G>A

dbSNP: rs751341214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002258624 SCV002527687 benign Hereditary cancer-predisposing syndrome 2021-11-26 criteria provided, single submitter curation
GeneDx RCV003229085 SCV003926182 uncertain significance not provided 2022-11-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Describes a nucleotide substitution 7 base pairs upstream of the CDKN1B ATG translational start site in the 5' untranslated region (UTR)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003229085 SCV004220769 benign not provided 2022-10-18 criteria provided, single submitter clinical testing
Invitae RCV003509705 SCV004271609 benign Multiple endocrine neoplasia type 4 2024-01-24 criteria provided, single submitter clinical testing

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