ClinVar Miner

Submissions for variant NM_000587.4(C7):c.317del (p.Asp106fs)

dbSNP: rs1579848888
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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 RCV000786902 SCV000925802 pathogenic Complement component 7 deficiency 2018-11-14 no assertion criteria provided clinical testing

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