ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.5787-20G>T

gnomAD frequency: 0.00090  dbSNP: rs185359850
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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) RCV000078968 SCV000110833 uncertain significance not provided 2013-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000078968 SCV001849728 benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055104 SCV002388958 benign Alpha thalassemia-X-linked intellectual disability syndrome 2025-02-02 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002251965 SCV002523546 benign See cases 2020-02-19 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BS2, BP4

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