ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.519G>A (p.Arg173=)

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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 RCV003495573 SCV004311821 likely benign Fucosidosis 2023-07-28 criteria provided, single submitter clinical testing

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