ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3639G>A (p.Thr1213=)

gnomAD frequency: 0.00008  dbSNP: rs747655543
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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 RCV000908728 SCV001053506 likely benign Saldino-Mainzer syndrome 2024-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502717 SCV002808015 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-11 criteria provided, single submitter clinical testing

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