ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)

dbSNP: rs754312950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000892292 SCV001036155 likely benign Saldino-Mainzer syndrome 2024-01-12 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075463 SCV001241086 uncertain significance Retinal dystrophy 2018-10-10 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001075463 SCV004704944 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003930819 SCV004738010 likely benign IFT140-related condition 2023-03-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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