ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)

dbSNP: rs748444836
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563772 SCV001786797 uncertain significance Holocarboxylase synthetase deficiency 2021-07-14 criteria provided, single submitter clinical testing

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