ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4659+16T>C

gnomAD frequency: 0.00514  dbSNP: rs143060452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427498 SCV000517168 benign not specified 2016-09-15 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001516222 SCV001724463 benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502497 SCV002806603 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-08-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708807 SCV005245481 benign not provided criteria provided, single submitter not provided

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