ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)

dbSNP: rs752659125
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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 RCV001237193 SCV001409944 likely benign Saldino-Mainzer syndrome 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484297 SCV002788242 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-02-15 criteria provided, single submitter clinical testing

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