ClinVar Miner

Submissions for variant NM_001143981.2(CHRDL1):c.1156+1G>T

dbSNP: rs2148409694
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague RCV001391103 SCV001576643 pathogenic Megalocornea criteria provided, single submitter clinical testing

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