ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.832G>A (p.Gly278Ser)

gnomAD frequency: 0.00005  dbSNP: rs141986611
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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 RCV001351465 SCV001545940 likely benign Saldino-Mainzer syndrome 2024-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005865 SCV005638748 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2023-12-29 criteria provided, single submitter clinical testing

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