ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.507T>C (p.Tyr169=)

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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 RCV002856722 SCV003221199 likely benign Wolman disease 2022-07-15 criteria provided, single submitter clinical testing

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