ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.88C>T (p.Leu30=)

gnomAD frequency: 0.00051  dbSNP: rs766870239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001274213 SCV001636950 likely benign Mucopolysaccharidosis type 6 2022-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960548 SCV004769846 likely benign ARSB-related disorder 2019-02-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274213 SCV001458083 uncertain significance Mucopolysaccharidosis type 6 2020-01-24 no assertion criteria provided clinical testing

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