ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu)

gnomAD frequency: 0.00006  dbSNP: rs566568065
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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 RCV002036692 SCV002317763 likely benign Saldino-Mainzer syndrome 2023-06-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486795 SCV002790948 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-11 criteria provided, single submitter clinical testing

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