ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5221A>C (p.Arg1741=)

gnomAD frequency: 0.00008  dbSNP: rs782633224
Minimum review status: Collection method:
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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 RCV000543756 SCV000639893 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-03 criteria provided, single submitter clinical testing
GeneDx RCV001785655 SCV002028082 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing

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