ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.-43C>T

gnomAD frequency: 0.00004  dbSNP: rs753592199
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000395272 SCV000439015 uncertain significance Alpha-N-acetylgalactosaminidase deficiency type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312832 SCV000439016 uncertain significance Alpha-N-acetylgalactosaminidase deficiency type 2 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694684 SCV005194499 uncertain significance not provided criteria provided, single submitter not provided

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