ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1359+20G>A

gnomAD frequency: 0.00035  dbSNP: rs374488263
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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 RCV002116696 SCV002446512 likely benign Saldino-Mainzer syndrome 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500200 SCV002811407 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-21 criteria provided, single submitter clinical testing

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