ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.189G>A (p.Arg63=)

gnomAD frequency: 0.00004  dbSNP: rs759832443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002071307 SCV002329602 likely benign Saldino-Mainzer syndrome 2024-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493994 SCV002803139 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-08-03 criteria provided, single submitter clinical testing

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