ClinVar Miner

Submissions for variant NM_003672.4(CDC14A):c.819C>G (p.Ala273=)

gnomAD frequency: 0.00453  dbSNP: rs28364884
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000954581 SCV000717815 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604304 SCV000967043 benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala273Ala in exon 9 of CDC14A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.58% (379/65906) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs28364884).
Invitae RCV000954581 SCV001101222 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000954581 SCV001143180 benign not provided 2018-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954581 SCV001371298 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CDC14A: BP4, BP7, BS2

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