ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1995C>T (p.Ala665=)

gnomAD frequency: 0.00009  dbSNP: rs200653061
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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 RCV001470107 SCV001674198 likely benign Saldino-Mainzer syndrome 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495696 SCV002800972 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-16 criteria provided, single submitter clinical testing

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