ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.831C>T (p.Val277=)

gnomAD frequency: 0.00010  dbSNP: rs142561199
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000297998 SCV000333069 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084793 SCV001007984 benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000297998 SCV001747075 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ATRX: BP4, BP7, BS2
Natera, Inc. RCV001084793 SCV001458094 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-01-24 no assertion criteria provided clinical testing

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