ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) (rs122445099)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723525 SCV000331241 pathogenic not provided 2016-04-25 criteria provided, single submitter clinical testing
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735339 SCV000854495 pathogenic Cryptorchidism; Osteosarcoma; Ambiguous genitalia; Microcephaly; Intellectual disability, severe criteria provided, single submitter clinical testing
OMIM RCV000012494 SCV000032728 pathogenic Alpha thalassemia-X-linked intellectual disability syndrome 1995-03-24 no assertion criteria provided literature only

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