ClinVar Miner

Submissions for variant NM_000518.4(HBB):c.269G>A (p.Ser90Asn) (rs33917628)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000016310 SCV000036578 other HEMOGLOBIN CRETEIL 2017-12-12 no assertion criteria provided literature only
OMIM RCV000641434 SCV000763075 pathogenic Erythrocytosis 6, familial 1978-06-01 no assertion criteria provided literature only
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV001374642 SCV001571561 likely pathogenic beta Thalassemia 2020-06-10 no assertion criteria provided clinical testing

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