ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.118A>G (p.Met40Val)

gnomAD frequency: 0.00005  dbSNP: rs149990714
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 RCV001279988 SCV001723339 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279988 SCV001467129 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-11 no assertion criteria provided clinical testing

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