ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.54G>A (p.Leu18=)

gnomAD frequency: 0.00005  dbSNP: rs142781021
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 RCV000927637 SCV001073225 likely benign Mucopolysaccharidosis type 6 2024-04-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000927637 SCV001458085 likely benign Mucopolysaccharidosis type 6 2020-04-17 no assertion criteria provided clinical testing

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