ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.12C>A (p.Pro4=)

dbSNP: rs921772690
Minimum review status: Collection method:
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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 RCV000934286 SCV001080007 likely benign Mucopolysaccharidosis, MPS-III-A 2024-06-03 criteria provided, single submitter clinical testing

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