ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.423C>T (p.Gly141=)

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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 RCV003116259 SCV003789470 likely benign Fucosidosis 2023-12-03 criteria provided, single submitter clinical testing

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