ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)

gnomAD frequency: 0.00002  dbSNP: rs1308342676
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224371 SCV001396561 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-11-02 criteria provided, single submitter clinical testing
New York Genome Center RCV002265962 SCV002548864 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2021-09-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001224371 SCV002087306 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-02-03 no assertion criteria provided clinical testing

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