ClinVar Miner

Submissions for variant NM_000064.4(C3):c.169_170del (p.Val57fs)

dbSNP: rs1568229677
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735715 SCV000863864 pathogenic Complement component 3 deficiency 2018-05-16 no assertion criteria provided clinical testing

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