ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.3537C>T (p.Val1179=)

gnomAD frequency: 0.00003  dbSNP: rs782800250
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000949197 SCV001095443 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-04-25 criteria provided, single submitter clinical testing
GeneDx RCV001563414 SCV001786348 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001563414 SCV005210653 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000949197 SCV002087299 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2021-10-18 no assertion criteria provided clinical testing

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