ClinVar Miner

Submissions for variant NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr)

gnomAD frequency: 0.00001  dbSNP: rs576803886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000926632 SCV001072195 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003224493 SCV003920688 uncertain significance Bardet-Biedl syndrome criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003913132 SCV004736656 likely benign IFT27-related disorder 2020-10-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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