ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.994+15T>G

dbSNP: rs1592501849
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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 RCV002074945 SCV002421151 likely benign Mucopolysaccharidosis, MPS-III-D 2024-10-23 criteria provided, single submitter clinical testing

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