ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.811-19C>T

gnomAD frequency: 0.00004  dbSNP: rs568239635
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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 RCV002113935 SCV002440645 likely benign Saldino-Mainzer syndrome 2022-06-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500163 SCV002812580 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-03-03 criteria provided, single submitter clinical testing

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