ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.811-10C>T

gnomAD frequency: 0.00004  dbSNP: rs781747985
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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 RCV000528584 SCV000640304 likely benign Saldino-Mainzer syndrome 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491017 SCV002799008 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-05-31 criteria provided, single submitter clinical testing

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