ClinVar Miner

Submissions for variant NM_015282.3(CLASP1):c.196-605C>T (rs188343279)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023096 SCV000044387 pathogenic Osteodysplastic primordial dwarfism, type 1 2015-11-02 no assertion criteria provided literature only
OMIM RCV000202312 SCV000257312 pathogenic Roifman syndrome 2015-11-02 no assertion criteria provided literature only

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