ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.267G>C (p.Pro89=)

gnomAD frequency: 0.00001  dbSNP: rs573453966
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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 RCV002197189 SCV002341164 likely benign Mucopolysaccharidosis type 6 2022-03-11 criteria provided, single submitter clinical testing

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