ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1621-13_1621-10del (rs377641674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185960 SCV000238918 benign not specified 2014-10-17 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
Invitae RCV000951730 SCV001098158 benign Holocarboxylase synthetase deficiency 2020-12-04 criteria provided, single submitter clinical testing

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