ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.785dup (p.Asn262fs)

dbSNP: rs749015246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000677596 SCV000803113 likely pathogenic Mucopolysaccharidosis type 6 2018-01-01 criteria provided, single submitter curation Frameshift variant (PVS1); Very low frequency in GnomAD (PM2)
Blueprint Genetics RCV001597200 SCV001832322 likely pathogenic not provided 2019-11-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000677596 SCV004209814 likely pathogenic Mucopolysaccharidosis type 6 2023-05-23 criteria provided, single submitter clinical testing

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