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
Invitae RCV000942065 SCV001087978 likely benign not provided 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001274213 SCV001636950 likely benign Mucopolysaccharidosis type 6 2021-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274213 SCV001458083 uncertain significance Mucopolysaccharidosis type 6 2020-01-24 no assertion criteria provided clinical testing

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