ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.478+1G>C

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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 RCV003468380 SCV004215797 likely pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2022-10-11 criteria provided, single submitter clinical testing

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