ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2074A>G (p.Asn692Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005031147 SCV005661341 uncertain significance Cranioectodermal dysplasia 1 2024-05-27 criteria provided, single submitter clinical testing

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