ClinVar Miner

Submissions for variant NM_001040616.3(LINS1):c.52G>A (p.Gly18Arg) (rs141782332)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623204 SCV000740774 uncertain significance Inborn genetic diseases 2014-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Ambry Genetics RCV000715794 SCV000846625 uncertain significance History of neurodevelopmental disorder 2018-12-24 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000968316 SCV001115758 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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