ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1654-12C>T

gnomAD frequency: 0.12634  dbSNP: rs112066509
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248710 SCV000315260 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351214 SCV000440820 benign Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000248710 SCV000728807 benign not specified 2017-09-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001701978 SCV001933280 benign Cranioectodermal dysplasia 1 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001701978 SCV002489162 benign Cranioectodermal dysplasia 1 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715809 SCV005304026 benign not provided criteria provided, single submitter not provided

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