ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.66C>T (p.Val22=)

gnomAD frequency: 0.00001  dbSNP: rs895965810
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881732 SCV001024923 likely benign Mucopolysaccharidosis type 6 2023-08-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000881732 SCV002084990 likely benign Mucopolysaccharidosis type 6 2021-02-03 no assertion criteria provided clinical testing

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