ClinVar Miner

Submissions for variant NC_000016.10:g.55459531_55462663del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Diseases Diagnostic Center, Koc University Hospital RCV000786064 SCV000864395 likely pathogenic Familial hypokalemia-hypomagnesemia 2018-12-18 no assertion criteria provided clinical testing

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