ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser)

gnomAD frequency: 0.00001  dbSNP: rs778343270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296129 SCV000438987 uncertain significance Alpha-N-acetylgalactosaminidase deficiency type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315970 SCV000438988 uncertain significance Alpha-N-acetylgalactosaminidase deficiency type 1 2016-06-14 criteria provided, single submitter clinical testing

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