ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.306C>T (p.Ala102=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002953020 SCV003272105 likely benign Mucopolysaccharidosis, MPS-IV-A 2023-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003427530 SCV004138194 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing GALNS: BP4, BP7

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