ClinVar Miner

Submissions for variant NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer)

dbSNP: rs864309516
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006461 SCV000026644 pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome 2004-11-01 no assertion criteria provided literature only

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