ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.156C>T (p.Leu52=)

gnomAD frequency: 0.00005  dbSNP: rs951936514
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000900285 SCV001044595 likely benign Mucopolysaccharidosis, MPS-III-D 2024-11-27 criteria provided, single submitter clinical testing

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