ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.159C>T (p.Leu53=)

dbSNP: rs2136259284
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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 RCV001972855 SCV002243760 likely benign Mucopolysaccharidosis, MPS-III-D 2022-12-23 criteria provided, single submitter clinical testing

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