ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.102G>A (p.Pro34=)

dbSNP: rs1466555919
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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 RCV002079104 SCV002426139 likely benign Mucopolysaccharidosis type 6 2021-07-21 criteria provided, single submitter clinical testing

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