ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.222G>C (p.Ala74=)

gnomAD frequency: 0.00001  dbSNP: rs1160145148
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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 RCV002111731 SCV002399787 likely benign Mucopolysaccharidosis type 6 2021-06-26 criteria provided, single submitter clinical testing

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