ClinVar Miner

Submissions for variant NM_004782.4(SNAP29):c.223del (p.Val75fs)

dbSNP: rs869312906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000210470 SCV000266552 pathogenic CEDNIK syndrome criteria provided, single submitter research
Hadassah Hebrew University Medical Center RCV000210470 SCV001142807 likely pathogenic CEDNIK syndrome 2019-06-20 criteria provided, single submitter clinical testing
OMIM RCV000210470 SCV000026279 pathogenic CEDNIK syndrome 2005-08-01 no assertion criteria provided literature only

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