ClinVar Miner

Submissions for variant NM_031942.5(CDCA7):c.745A>C (p.Arg249=)

gnomAD frequency: 0.00053  dbSNP: rs146148251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879054 SCV001022064 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003754890 SCV004563295 likely benign Immunodeficiency-centromeric instability-facial anomalies syndrome 3 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000879054 SCV005257075 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003967958 SCV004794896 likely benign CDCA7-related disorder 2019-03-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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