ClinVar Miner

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

dbSNP: rs377641674
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Total submissions: 4
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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 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436977 SCV004153624 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing HLCS: BS1
Natera, Inc. RCV000951730 SCV002083734 likely benign Holocarboxylase synthetase deficiency 2019-09-27 no assertion criteria provided clinical testing

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