ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1147+19C>T

gnomAD frequency: 0.10129  dbSNP: rs2301570
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243928 SCV000315259 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001660356 SCV001881236 benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701918 SCV001933279 benign Cranioectodermal dysplasia 1 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001701918 SCV002397915 benign Cranioectodermal dysplasia 1 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001660356 SCV005304020 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000243928 SCV001959895 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000243928 SCV001968759 benign not specified no assertion criteria provided clinical testing

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