ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.121-202A>G

dbSNP: rs550044789
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809074 SCV002059440 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-11-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692736 SCV005192723 uncertain significance not provided criteria provided, single submitter not provided

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