ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)

gnomAD frequency: 0.00001  dbSNP: rs766316995
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333079 SCV001525565 uncertain significance Saldino-Mainzer syndrome 2019-12-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333079 SCV001538947 likely benign Saldino-Mainzer syndrome 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486331 SCV002784649 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-05-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888030 SCV004704971 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004987085 SCV005604228 likely benign Inborn genetic diseases 2024-08-11 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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