ClinVar Miner

Submissions for variant NM_001330588.2(TPP2):c.82T>G (p.Cys28Gly)

dbSNP: rs1879008406
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493716 SCV002783844 uncertain significance Immunodeficiency 78 with autoimmunity and developmental delay 2022-02-19 criteria provided, single submitter clinical testing
OMIM RCV001327999 SCV001519330 uncertain significance not provided 2021-03-10 no assertion criteria provided literature only

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