ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1992+7A>G

gnomAD frequency: 0.00006  dbSNP: rs757823317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175241 SCV000226690 uncertain significance not provided 2014-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056933 SCV002475559 benign Cranioectodermal dysplasia 1 2024-10-17 criteria provided, single submitter clinical testing

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