ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.679T>G (p.Phe227Val)

dbSNP: rs2143001417
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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 RCV001379250 SCV001577011 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-08-26 criteria provided, single submitter clinical testing

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