ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2133T>G (p.Pro711=)

gnomAD frequency: 0.00005  dbSNP: rs782781621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001279983 SCV001705560 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279983 SCV001467124 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-08-13 no assertion criteria provided clinical testing

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