ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3543G>A (p.Ser1181=)

gnomAD frequency: 0.00018  dbSNP: rs377427370
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001455967 SCV001659740 likely benign Saldino-Mainzer syndrome 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487970 SCV002795000 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910789 SCV004720091 likely benign IFT140-related disorder 2019-08-28 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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