ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=)

gnomAD frequency: 0.00075  dbSNP: rs148387007
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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 RCV000964668 SCV001111897 likely benign Saldino-Mainzer syndrome 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503022 SCV002811406 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-25 criteria provided, single submitter clinical testing

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