ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1350T>C (p.Cys450=)

gnomAD frequency: 0.00003  dbSNP: rs782077373
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001493701 SCV001698336 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001493701 SCV002087361 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2021-06-11 no assertion criteria provided clinical testing

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