ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.893C>T (p.Ala298Val)

gnomAD frequency: 0.00001  dbSNP: rs1451709678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000758004 SCV000882525 likely pathogenic Mucopolysaccharidosis type 7 criteria provided, single submitter research

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