ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.544_545dup (p.Leu182fs)

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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 RCV005031340 SCV005657926 likely pathogenic Asphyxiating thoracic dystrophy 2 2024-05-14 criteria provided, single submitter clinical testing

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