ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.90C>G (p.Pro30=)

dbSNP: rs1967938638
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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 RCV002138630 SCV002451140 likely benign Mucopolysaccharidosis, MPS-IV-A 2022-06-13 criteria provided, single submitter clinical testing

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