ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.161C>T (p.Ala54Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN RCV004689558 SCV005186154 pathogenic Beta-thalassemia HBB/LCRB 2024-05-07 no assertion criteria provided clinical testing The variant HBB:c.161C>T also known as Hb Midnapore. The variant found in a 3 year old girl in Midnapore, westbengal, India. The variant was found with homozygous HBB:c.92+5G>C. The girl was suffering with severe anemia.

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