ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.283C>A (p.Arg95=)

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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 RCV002909550 SCV003257299 likely benign Mucopolysaccharidosis type 6 2021-12-19 criteria provided, single submitter clinical testing

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