ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.427G>A (p.Val143Ile)

gnomAD frequency: 0.00016  dbSNP: rs145976849
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002051956 SCV003917787 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing CCDC22: BP4, BS2
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics RCV002051956 SCV002099773 uncertain significance not provided no assertion criteria provided research

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