ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1653-10del

dbSNP: rs760597633
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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 RCV002129017 SCV002458973 likely benign Saldino-Mainzer syndrome 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500266 SCV002809157 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-27 criteria provided, single submitter clinical testing

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