ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.1839+31G>A

gnomAD frequency: 0.70672  dbSNP: rs749105
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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 RCV001702214 SCV001933055 benign Hemolytic anemia due to hexokinase deficiency 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702215 SCV001933056 benign Neurodevelopmental disorder with visual defects and brain anomalies 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702350 SCV001933057 benign Charcot-Marie-Tooth disease type 4G 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702351 SCV001933058 benign Retinitis pigmentosa 79 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718957 SCV005318905 benign not provided criteria provided, single submitter not provided

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