ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.1825C>G (p.Pro609Ala) (rs186742436)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861727 SCV001002119 benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-12-07 criteria provided, single submitter clinical testing
ITMI RCV000120182 SCV000084326 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000861727 SCV001458091 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-07 no assertion criteria provided clinical testing

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