ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1893-46G>T

gnomAD frequency: 0.59296  dbSNP: rs2073421
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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 RCV000246917 SCV000304066 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527172 SCV001738105 benign Holocarboxylase synthetase deficiency 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001682975 SCV001898278 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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