ClinVar Miner

Submissions for variant NM_000411.7(HLCS):c.-471A>G

gnomAD frequency: 0.25745  dbSNP: rs118091633
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341933 SCV000436077 benign Holocarboxylase synthetase deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001653650 SCV001862821 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653650 SCV005310129 benign not provided criteria provided, single submitter not provided

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