ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.506+7G>T

dbSNP: rs2144748073
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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 RCV002215557 SCV002367342 likely benign Mucopolysaccharidosis, MPS-III-A 2021-07-07 criteria provided, single submitter clinical testing

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