ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.*3226dup

dbSNP: rs35955622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000333447 SCV000435991 uncertain significance Holocarboxylase synthetase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694636 SCV005195129 uncertain significance not provided criteria provided, single submitter not provided

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