ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1326del (p.Val443fs)

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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 RCV003468343 SCV004199846 likely pathogenic Holocarboxylase synthetase deficiency 2023-05-24 criteria provided, single submitter clinical testing

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