ClinVar Miner

Submissions for variant NM_000611.6(CD59):c.146del (p.Asp49fs)

dbSNP: rs587777149
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000087130 SCV000119991 pathogenic Primary CD59 deficiency 2014-01-02 no assertion criteria provided literature only

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