ClinVar Miner

Submissions for variant NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu)

gnomAD frequency: 0.00001  dbSNP: rs397514669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696646 SCV005198958 likely pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing
OMIM RCV000034310 SCV000058261 pathogenic Schnyder crystalline corneal dystrophy 2013-02-01 no assertion criteria provided literature only

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