ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2632A>G (p.Ile878Val)

dbSNP: rs1045778698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001290431 SCV001478460 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly 2021-02-09 criteria provided, single submitter clinical testing The variant (rs1045778698) is listed in gnomAD with a frequency of 0.021% (60/282274) (02/05/2021). In bioinformatics, the change is classified as "probably disease causing" (CADDPhred 25.8, MutationTaster). The variant is currently classified as a "variant of uncertain clinical significance" (ACMG criteria).
Fulgent Genetics, Fulgent Genetics RCV005029859 SCV005651398 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2023-12-27 criteria provided, single submitter clinical testing

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