ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)

gnomAD frequency: 0.00005  dbSNP: rs150276786
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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 RCV001230459 SCV001402939 likely benign Saldino-Mainzer syndrome 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491739 SCV002776132 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-12-30 criteria provided, single submitter clinical testing

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