ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)

dbSNP: rs1564557037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000782118 SCV000854591 likely pathogenic Neurodevelopmental abnormality 2018-11-27 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805835 SCV002053832 likely pathogenic Charcot-Marie-Tooth disease type 4G criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000850127 SCV002053900 likely pathogenic Neurodevelopmental disorder with visual defects and brain anomalies criteria provided, single submitter clinical testing
OMIM RCV000850127 SCV000992291 pathogenic Neurodevelopmental disorder with visual defects and brain anomalies 2019-08-22 no assertion criteria provided literature only

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