ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1564A>G (p.Met522Val)

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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 RCV005034950 SCV005659565 uncertain significance Cranioectodermal dysplasia 1 2024-05-29 criteria provided, single submitter clinical testing

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