ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.225G>A (p.Leu75=)

dbSNP: rs1362656468
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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 RCV002186712 SCV002342997 likely benign Mucopolysaccharidosis type 6 2021-04-02 criteria provided, single submitter clinical testing

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