ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476424 SCV004199820 likely pathogenic Holocarboxylase synthetase deficiency 2023-10-29 criteria provided, single submitter clinical testing

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