ClinVar Miner

Submissions for variant NM_000184.2(HBG2):c.122G>A (p.Arg41Lys)

gnomAD frequency: 0.00005  dbSNP: rs281864892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114193 SCV003799302 likely benign not provided 2022-05-05 criteria provided, single submitter clinical testing
OMIM RCV000016126 SCV000036394 other HEMOGLOBIN F (AUSTELL) 2011-08-05 no assertion criteria provided literature only

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