ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.1441-18C>G

gnomAD frequency: 0.00530  dbSNP: rs181295177
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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 RCV000245091 SCV000313062 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058279 SCV002322796 benign Primary ciliary dyskinesia 2025-01-08 criteria provided, single submitter clinical testing
GeneDx RCV002285298 SCV002575438 likely benign not provided 2018-10-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003640880 SCV004563242 benign Primary ciliary dyskinesia 15 2023-08-21 criteria provided, single submitter clinical testing

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