ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4815+9G>A

gnomAD frequency: 0.00019  dbSNP: rs199667794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431845 SCV000530602 likely benign not specified 2016-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000959806 SCV001106736 benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488951 SCV002797959 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-09-08 criteria provided, single submitter clinical testing

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