ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1438-36G>A

gnomAD frequency: 0.55169  dbSNP: rs2073425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000243548 SCV000304071 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527173 SCV001738106 benign Holocarboxylase synthetase deficiency 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001636746 SCV001851813 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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