ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.192A>C (p.Ala64=)

dbSNP: rs1229050672
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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 RCV003598336 SCV004386441 likely benign Mucopolysaccharidosis, MPS-IV-A 2024-10-12 criteria provided, single submitter clinical testing

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