ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)

gnomAD frequency: 0.00002  dbSNP: rs1280555560
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 RCV000701090 SCV000829873 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000701090 SCV002087283 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-02-03 no assertion criteria provided clinical testing

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