ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2122-30G>A

gnomAD frequency: 0.40931  dbSNP: rs2073420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252073 SCV000304067 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830820 SCV000972556 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001527310 SCV001738278 benign Holocarboxylase synthetase deficiency 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830820 SCV005310098 benign not provided criteria provided, single submitter not provided

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