ClinVar Miner

Submissions for variant NM_000147.5(FUCA1):c.417C>T (p.His139=)

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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 RCV003496719 SCV004334543 likely benign Fucosidosis 2023-06-23 criteria provided, single submitter clinical testing

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