ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.484C>G (p.Leu162Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287271 SCV002577514 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2022-06-30 criteria provided, single submitter clinical testing PM2, PP2, PP3

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