ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.1332C>T (p.Val444=) (rs138702144)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193544 SCV000248615 uncertain significance not specified 2015-04-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716574 SCV000847415 likely benign History of neurodevelopmental disorder 2016-07-11 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Invitae RCV000958315 SCV001105149 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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