ClinVar Miner

Submissions for variant NM_001987.4(ETV6):c.1153-5_1153-1del

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000170463 SCV000222711 pathogenic See cases 2014-04-18 criteria provided, single submitter clinical testing LIKELY POSITIVE: Relevant Alteration(s) Detected
Ambry Genetics RCV000210685 SCV000262993 pathogenic Inborn genetic diseases criteria provided, single submitter clinical testing Overall WES conclusion for patient, including all identified alterations: LIKELY POSITIVE: Relevant Alteration(s) Detected
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center RCV000170466 SCV000222715 pathogenic Acute lymphoid leukemia; Thrombocytopenia 2015-03-17 no assertion criteria provided clinical testing Co-segregation in family
Diagnostic Molecular Genetics Laboratory,Memorial Sloan Kettering Cancer Center RCV000170467 SCV000222716 pathogenic Thrombocytopenia 2015-03-17 no assertion criteria provided clinical testing Co-segregation in family

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