ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1918G>A (p.Val640Ile)

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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 RCV005049864 SCV005678853 uncertain significance Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2024-03-14 criteria provided, single submitter clinical testing

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