ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.492-20C>T

gnomAD frequency: 0.00273  dbSNP: rs149012740
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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 RCV001510495 SCV001717541 benign Saldino-Mainzer syndrome 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501753 SCV002810675 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-09-01 criteria provided, single submitter clinical testing

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