ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2245A>T (p.Met749Leu)

gnomAD frequency: 0.00001  dbSNP: rs794727330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176123 SCV000227725 uncertain significance not provided 2014-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505256 SCV002816450 uncertain significance Cranioectodermal dysplasia 1 2022-04-16 criteria provided, single submitter clinical testing

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