ClinVar Miner

Submissions for variant NM_001033053.2(NLRP1):c.2358-?_2528+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000445352 SCV000536690 pathogenic Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 2020-03-13 no assertion criteria provided literature only

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