ClinVar Miner

Submissions for variant NM_006859.4(LIAS):c.45+15G>A

gnomAD frequency: 0.18886  dbSNP: rs2687959
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734058 SCV000862169 benign not specified 2018-06-27 criteria provided, single submitter clinical testing
Invitae RCV001509663 SCV001716491 benign Lipoic acid synthetase deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001619835 SCV001842568 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001509663 SCV001981364 benign Lipoic acid synthetase deficiency 2021-08-19 criteria provided, single submitter clinical testing

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