ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)

gnomAD frequency: 0.00001  dbSNP: rs782773652
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 RCV000814102 SCV000954501 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000814102 SCV002087263 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2021-09-08 no assertion criteria provided clinical testing

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