ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3864T>C (p.Ala1288=)

gnomAD frequency: 0.00001  dbSNP: rs1181821502
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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 RCV002096190 SCV002395580 likely benign Saldino-Mainzer syndrome 2022-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494222 SCV002795815 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-04-22 criteria provided, single submitter clinical testing

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