ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1146G>A (p.Thr382=)

gnomAD frequency: 0.00010  dbSNP: rs200975046
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002085013 SCV002328035 likely benign Saldino-Mainzer syndrome 2025-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498098 SCV002812615 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-14 criteria provided, single submitter clinical testing

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