ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1122T>G (p.His374Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV003234749 SCV003932608 likely pathogenic Wolman disease no assertion criteria provided research

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