ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) (rs782391479)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714727 SCV000845454 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000714727 SCV001013910 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-11-18 criteria provided, single submitter clinical testing

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