ClinVar Miner

Submissions for variant NM_015282.3(CLASP1):c.196-672A>G (rs863225423)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090269 SCV001245704 pathogenic not provided 2018-01-01 criteria provided, single submitter clinical testing
OMIM RCV000202310 SCV000257318 pathogenic Roifman syndrome 2015-11-02 no assertion criteria provided literature only

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