ClinVar Miner

Submissions for variant NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg)

dbSNP: rs1057517363
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
Counsyl RCV000412333 SCV000487165 likely pathogenic Multiple sulfatase deficiency 2016-10-18 criteria provided, single submitter clinical testing
GeneReviews RCV000412333 SCV000899287 not provided Multiple sulfatase deficiency no assertion provided literature only

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