ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2451-1G>A

gnomAD frequency: 0.00001  dbSNP: rs1158898827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000722001 SCV004199825 pathogenic Holocarboxylase synthetase deficiency 2023-09-28 criteria provided, single submitter clinical testing
SingHealth Duke-NUS Institute of Precision Medicine RCV000722001 SCV000853165 uncertain significance Holocarboxylase synthetase deficiency 2017-06-07 no assertion criteria provided curation

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