ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.39G>A (p.Leu13=)

gnomAD frequency: 0.00006  dbSNP: rs767326423
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 RCV002211804 SCV002357314 likely benign Mucopolysaccharidosis, MPS-IV-A 2024-01-29 criteria provided, single submitter clinical testing

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