ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser)

gnomAD frequency: 0.00003  dbSNP: rs778960409
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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 RCV001339303 SCV001533036 likely benign Saldino-Mainzer syndrome 2024-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493742 SCV002787234 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-06 criteria provided, single submitter clinical testing

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