ClinVar Miner

Submissions for variant NM_015693.4(INTU):c.813G>A (p.Thr271=)

gnomAD frequency: 0.59996  dbSNP: rs4833380
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536874 SCV001753686 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730828 SCV001981482 benign Orofaciodigital syndrome 17 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730829 SCV001981483 benign Short-rib thoracic dysplasia 20 with polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001536874 SCV002373084 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536874 SCV005303342 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003983964 SCV004796353 benign INTU-related disorder 2019-05-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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