ClinVar Miner

Submissions for variant NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)

gnomAD frequency: 0.00170  dbSNP: rs150681845
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000598896 SCV002403073 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Mendelics RCV002248815 SCV002517209 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000598896 SCV000710810 uncertain significance not provided 2018-04-02 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000851202 SCV000993453 likely pathogenic Nephronophthisis; Growth delay 2016-05-09 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003935632 SCV004751660 benign INTU-related disorder 2022-04-01 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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