ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)

gnomAD frequency: 0.00002  dbSNP: rs782470087
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247198 SCV001420606 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247198 SCV002087341 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-06-04 no assertion criteria provided clinical testing

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