ClinVar Miner

Submissions for variant NM_021101.5(CLDN1):c.242G>A (p.Arg81His)

gnomAD frequency: 0.00002  dbSNP: rs200968478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597209 SCV000709311 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
OMIM RCV005049616 SCV005684946 pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome 2025-01-21 no assertion criteria provided literature only

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