ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.4710T>C (p.Phe1570=)

gnomAD frequency: 0.00005  dbSNP: rs781829081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000979065 SCV001127003 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000979065 SCV001467122 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-10-22 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004535993 SCV004741011 likely benign ATRX-related disorder 2019-10-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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