ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.856-18G>A

gnomAD frequency: 0.00151  dbSNP: rs189118723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248873 SCV000313117 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514712 SCV000610317 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058281 SCV002402691 benign Primary ciliary dyskinesia 2024-12-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005230208 SCV005877521 likely benign Primary ciliary dyskinesia 15 2024-05-20 criteria provided, single submitter clinical testing

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