ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.339T>A (p.Thr113=)

dbSNP: rs1869942986
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001402228 SCV001604073 likely benign Mucopolysaccharidosis, MPS-III-D 2020-08-30 criteria provided, single submitter clinical testing

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