ClinVar Miner

Submissions for variant NM_001013838.3(CARMIL2):c.3444TGG[1] (p.Gly1150del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144655 SCV003830588 uncertain significance Severe combined immunodeficiency due to CARMIL2 deficiency 2023-01-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003144655 SCV003835149 uncertain significance Severe combined immunodeficiency due to CARMIL2 deficiency 2021-12-31 criteria provided, single submitter clinical testing

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