ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.133+16C>A

dbSNP: rs144223231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000197639 SCV000304571 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002057030 SCV002322178 benign Supravalvar aortic stenosis 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727628 SCV002545517 benign not provided 2022-12-01 criteria provided, single submitter clinical testing ELN: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000197639 SCV001930789 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727628 SCV001974702 likely benign not provided no assertion criteria provided clinical testing

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