ClinVar Miner

Submissions for variant NM_000065.5(C6):c.107C>A (p.Ser36Ter)

dbSNP: rs1329836511
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334187 SCV001526966 pathogenic Complement component 6 deficiency 2018-07-25 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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