ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4329G>A (p.Glu1443=)

gnomAD frequency: 0.00002  dbSNP: rs782044671
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867739 SCV001008997 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-07-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438518 SCV004165884 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ATRX: BP4, BP7
Natera, Inc. RCV000867739 SCV002087275 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-28 no assertion criteria provided clinical testing

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