ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg)

gnomAD frequency: 0.00003  dbSNP: rs201100248
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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 RCV001965229 SCV002210656 likely benign Saldino-Mainzer syndrome 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484693 SCV002783877 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-03 criteria provided, single submitter clinical testing

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