ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital RCV003983772 SCV004800846 likely pathogenic Holocarboxylase synthetase deficiency no assertion criteria provided clinical testing PVS1+PM2_P

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