ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)

gnomAD frequency: 0.00005  dbSNP: rs587778087
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861507 SCV001001845 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001573482 SCV001871492 benign not provided 2021-06-05 criteria provided, single submitter clinical testing
ITMI RCV000120179 SCV000084322 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573482 SCV001799426 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573482 SCV001966933 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000861507 SCV002087323 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-07-31 no assertion criteria provided clinical testing

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