ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala)

gnomAD frequency: 0.00005  dbSNP: rs781836912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520949 SCV001730170 benign Alpha thalassemia-X-linked intellectual disability syndrome 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001587456 SCV001822924 likely benign not provided 2020-09-29 criteria provided, single submitter clinical testing

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