ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.300T>C (p.Thr100=)

dbSNP: rs1753094740
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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 RCV001476131 SCV001680336 likely benign Mucopolysaccharidosis type 6 2024-01-31 criteria provided, single submitter clinical testing

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