ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)

gnomAD frequency: 0.00005  dbSNP: rs199543136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623175 SCV000742274 uncertain significance Inborn genetic diseases 2017-04-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766105 SCV000897584 uncertain significance Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000976466 SCV001124369 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-04 criteria provided, single submitter clinical testing

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