ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3426G>A (p.Ala1142=)

gnomAD frequency: 0.00029  dbSNP: rs202224171
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950929 SCV001097274 likely benign Saldino-Mainzer syndrome 2024-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479094 SCV002799951 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-05 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701258 SCV001920499 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726379 SCV001966704 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003960620 SCV004768502 likely benign IFT140-related disorder 2019-02-25 no assertion criteria provided 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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