ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)

dbSNP: rs782391479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714727 SCV000845454 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000714727 SCV001013910 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001775982 SCV002013828 uncertain significance not provided 2024-09-28 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 38369337)
Natera, Inc. RCV000714727 SCV002087261 benign Alpha thalassemia-X-linked intellectual disability syndrome 2019-10-28 no assertion criteria provided clinical testing

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