ClinVar Miner

Submissions for variant NM_001358263.1(HK1):c.75+20336T>A

dbSNP: rs769395943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330230 SCV001521853 uncertain significance Hemolytic anemia due to hexokinase deficiency 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738043 SCV004564524 likely benign not provided 2023-05-11 criteria provided, single submitter clinical testing

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