ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4227C>G (p.Ala1409=)

dbSNP: rs143920103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001456382 SCV001660160 likely benign Saldino-Mainzer syndrome 2024-01-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488261 SCV002794675 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955998 SCV004782943 likely benign IFT140-related condition 2019-08-13 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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