ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1101C>T (p.Asn367=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003841899 SCV004648516 benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-05-15 criteria provided, single submitter clinical testing

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