ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.708G>A (p.Ser236=)

gnomAD frequency: 0.00003  dbSNP: rs775884527
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001394925 SCV001596619 likely benign Mucopolysaccharidosis, MPS-III-D 2024-10-28 criteria provided, single submitter clinical testing

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