ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3661-18C>T

gnomAD frequency: 0.00039  dbSNP: rs575501010
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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 RCV001518293 SCV001726961 benign Saldino-Mainzer syndrome 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495815 SCV002797954 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-09-07 criteria provided, single submitter clinical testing

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