ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1245C>T (p.Ser415=)

gnomAD frequency: 0.00007  dbSNP: rs141815992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868381 SCV001009707 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001566678 SCV001790237 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868381 SCV002087367 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-08-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004538270 SCV004738232 likely benign ATRX-related disorder 2020-02-14 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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