ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1428T>C (p.Ser476=)

dbSNP: rs771030841
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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 RCV001499047 SCV001703804 likely benign Saldino-Mainzer syndrome 2023-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495756 SCV002801210 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-04-29 criteria provided, single submitter clinical testing

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