ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3012A>C (p.Lys1004Asn)

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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 RCV002575386 SCV002933796 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2023-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003439026 SCV004165889 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing ATRX: BP4

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