ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.262A>C (p.Thr88Pro) (rs35553496)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508492 SCV000603921 likely benign not specified 2016-11-03 criteria provided, single submitter clinical testing
Mendelics RCV000029973 SCV001138216 benign beta Thalassemia 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000016749 SCV000037019 other HEMOGLOBIN VALLETTA 2017-12-12 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000029973 SCV000052628 likely benign beta Thalassemia 2015-10-02 no assertion criteria provided clinical testing

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