ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)

dbSNP: rs1639470403
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 RCV001250216 SCV001424418 likely pathogenic Fucosidosis criteria provided, single submitter clinical testing

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