ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.942T>C (p.Leu314=)

dbSNP: rs1748000092
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001505612 SCV001710520 likely benign Mucopolysaccharidosis type 6 2023-07-25 criteria provided, single submitter clinical testing

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