ClinVar Miner

Submissions for variant NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) (rs33931314)

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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 RCV000506137 SCV000603867 likely pathogenic not specified 2017-01-13 criteria provided, single submitter clinical testing
OMIM RCV000017025 SCV000037297 other HEMOGLOBIN G (GEORGIA) 2016-07-20 no assertion criteria provided literature only

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