ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)

gnomAD frequency: 0.00001  dbSNP: rs777181948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369014 SCV001565440 likely benign Saldino-Mainzer syndrome 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504612 SCV002814282 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037069 SCV004886201 likely benign Inborn genetic diseases 2023-12-20 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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