ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.-140C>T (rs34999973)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000029954 SCV000220248 likely pathogenic beta Thalassemia 2014-04-15 criteria provided, single submitter literature only
GeneReviews RCV000029954 SCV000537281 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000202364 SCV000052609 pathogenic Beta thalassemia intermedia 2015-11-08 no assertion criteria provided clinical testing
OMIM RCV000016778 SCV000037048 pathogenic Beta-plus-thalassemia 1992-07-01 no assertion criteria provided literature only

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