ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu)

gnomAD frequency: 0.00319  dbSNP: rs7580439
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878116 SCV001020970 benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001615075 SCV001838861 benign not provided 2018-08-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001817050 SCV002070883 likely benign not specified 2021-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539258 SCV003538131 likely benign Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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