ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.355-12C>T

gnomAD frequency: 0.00001  dbSNP: rs1004281478
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429993 SCV000536109 likely benign not specified 2017-01-04 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.
Counsyl RCV000663111 SCV000786236 likely benign Melanoma, cutaneous malignant, susceptibility to, 3 2018-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679202 SCV000805806 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056676 SCV002463665 likely benign Familial melanoma 2025-01-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000663111 SCV004020071 likely benign Melanoma, cutaneous malignant, susceptibility to, 3 2023-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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