ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.951A>G (p.Arg317=)

dbSNP: rs1318270777
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 RCV001280365 SCV003467249 likely benign Mucopolysaccharidosis type 6 2023-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280365 SCV001467542 uncertain significance Mucopolysaccharidosis type 6 2020-08-14 no assertion criteria provided clinical testing

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