ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)

gnomAD frequency: 0.00006  dbSNP: rs771632573
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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 RCV001988762 SCV002285340 likely benign Saldino-Mainzer syndrome 2024-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492277 SCV002778757 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-18 criteria provided, single submitter clinical testing

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