ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])

dbSNP: rs746697405
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386105 SCV000395076 uncertain significance Saldino-Mainzer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000386105 SCV001417925 benign Saldino-Mainzer syndrome 2024-01-31 criteria provided, single submitter clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000256471 SCV000322798 likely pathogenic Orofacial-digital syndrome III; Asphyxiating thoracic dystrophy 1 no assertion criteria provided research
Clinical Genetics, Academic Medical Center RCV001795477 SCV002034619 uncertain significance not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795477 SCV002035672 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795477 SCV002038205 uncertain significance not provided no assertion criteria provided clinical testing

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