ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.478+6T>A

dbSNP: rs1555844600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668431 SCV000793030 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2017-08-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000668431 SCV003822574 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2019-11-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668431 SCV004215786 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2023-01-04 criteria provided, single submitter clinical testing

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