ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)

gnomAD frequency: 0.00014  dbSNP: rs150498538
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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 RCV001053823 SCV001218105 likely benign Saldino-Mainzer syndrome 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481981 SCV002775158 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002553329 SCV003743550 likely benign Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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