ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.195C>T (p.Ser65=)

dbSNP: rs2112582289
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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 RCV001959158 SCV002246094 likely benign Mucopolysaccharidosis type 6 2023-12-26 criteria provided, single submitter clinical testing

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