ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3271-5C>T

gnomAD frequency: 0.00004  dbSNP: rs368227090
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317088 SCV001507735 likely benign Saldino-Mainzer syndrome 2022-07-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499615 SCV002806144 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-11-16 criteria provided, single submitter clinical testing

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