ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.264G>T (p.Gln88His)

dbSNP: rs750947605
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251147 SCV001426515 pathogenic Mucopolysaccharidosis type 6 criteria provided, single submitter clinical testing

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