ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.594+8A>G

gnomAD frequency: 0.00001  dbSNP: rs1557145476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000659168 SCV000780984 likely benign not provided 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427562 SCV001630246 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2020-09-30 criteria provided, single submitter clinical testing

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