ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1620+7del

dbSNP: rs140568778
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078723 SCV000110583 benign not specified 2013-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001703985 SCV000238917 benign not provided 2018-06-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078723 SCV000304064 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000383844 SCV000436049 likely benign Holocarboxylase synthetase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000383844 SCV001730425 benign Holocarboxylase synthetase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000383844 SCV001461050 benign Holocarboxylase synthetase deficiency 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078723 SCV001921203 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001703985 SCV001963027 likely benign not provided no assertion criteria provided clinical testing

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