ClinVar Miner

Submissions for variant NM_000046.3(ARSB):c.-590A>T

gnomAD frequency: 0.00040  dbSNP: rs138175832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000376115 SCV000458405 uncertain significance Mucopolysaccharidosis type 6 2016-06-14 criteria provided, single submitter clinical testing

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