ClinVar Miner

Submissions for variant NM_001003722.2(GLE1):c.2015dup (p.Gln673fs)

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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 RCV005043853 SCV005679960 likely pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome; Lethal congenital contracture syndrome 1 2024-01-23 criteria provided, single submitter clinical testing

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