ClinVar Miner

Submissions for variant NM_017668.3(NDE1):c.947+7069_947+7073del

dbSNP: rs5815842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379522 SCV000395182 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282801 SCV000395183 likely benign Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001590944 SCV001822221 likely benign not provided 2019-08-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001590944 SCV002585550 benign not provided 2023-06-01 criteria provided, single submitter clinical testing MYH11: BS1, BS2; NDE1: BS1, BS2

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