ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.756G>A (p.Gly252=)

gnomAD frequency: 0.00021  dbSNP: rs146538873
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002065916 SCV002352152 likely benign Mucopolysaccharidosis, MPS-IV-A 2024-08-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424470 SCV004138193 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing GALNS: BP4, BP7

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