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: 3
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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].
Invitae 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

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