ClinVar Miner

Submissions for variant NM_001358263.1(HK1):c.75+23T>C

dbSNP: rs4746837
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001703322 SCV001934147 benign Hemolytic anemia due to hexokinase deficiency 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702054 SCV001934148 benign Neurodevelopmental disorder with visual defects and brain anomalies 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703323 SCV001934149 benign Charcot-Marie-Tooth disease type 4G 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703324 SCV001934150 benign Retinitis pigmentosa 79 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718956 SCV005318893 benign not provided criteria provided, single submitter not provided

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