ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3915T>A (p.Ser1305=)

gnomAD frequency: 0.37673  dbSNP: rs56076827
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443115 SCV000516351 benign not specified 2016-01-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521677 SCV001731063 benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702640 SCV001933283 benign Retinitis pigmentosa 71 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702463 SCV001933284 benign Short-rib thoracic dysplasia 10 with or without polydactyly 2021-08-10 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889882 SCV004705237 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004708802 SCV005245503 benign not provided criteria provided, single submitter not provided

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