ClinVar Miner

Submissions for variant NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter)

dbSNP: rs1368296717
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267745 SCV001424061 pathogenic Autoimmune lymphoproliferative syndrome type 2B 2020-05-21 no assertion criteria provided clinical testing

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