ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2200-20A>G

gnomAD frequency: 0.00002  dbSNP: rs760501465
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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 RCV002023188 SCV002303705 likely benign Saldino-Mainzer syndrome 2023-12-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492367 SCV002796408 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-04 criteria provided, single submitter clinical testing

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