ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1230G>A (p.Glu410=)

gnomAD frequency: 0.00001  dbSNP: rs567507214
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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 RCV001478667 SCV001682941 likely benign Mucopolysaccharidosis, MPS-IV-A 2024-02-17 criteria provided, single submitter clinical testing

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