ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1458C>T (p.Leu486=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003413033 SCV004138191 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing GALNS: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003495340 SCV004320439 likely benign Mucopolysaccharidosis, MPS-IV-A 2023-08-30 criteria provided, single submitter clinical testing

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