ClinVar Miner

Submissions for variant NM_001759.4(CCND2):c.785G>A (p.Arg262His)

gnomAD frequency: 0.00115  dbSNP: rs142170178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000437731 SCV000511032 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000437731 SCV001042679 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000437731 SCV001988823 benign not provided 2021-07-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29642553)
CeGaT Center for Human Genetics Tuebingen RCV000437731 SCV004132369 benign not provided 2023-11-01 criteria provided, single submitter clinical testing CCND2: BP4, BS1, BS2

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