ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2916C>T (p.Asp972=)

gnomAD frequency: 0.00001  dbSNP: rs148945612
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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 RCV001434497 SCV001637305 likely benign Saldino-Mainzer syndrome 2024-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501534 SCV002808137 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920933 SCV004735618 likely benign IFT140-related disorder 2024-02-19 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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