ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)

dbSNP: rs779423223
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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 RCV002478678 SCV002783568 likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 2; Alpha-N-acetylgalactosaminidase deficiency type 1 2021-11-05 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000192506 SCV000223939 likely pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1 2014-05-13 no assertion criteria provided clinical testing

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