ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.282G>A (p.Ser94=)

dbSNP: rs2112581145
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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 RCV001406564 SCV001608519 likely benign Mucopolysaccharidosis type 6 2019-09-03 criteria provided, single submitter clinical testing

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