ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10310C>T (p.Ala3437Val) (rs112045467)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514319 SCV000610216 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715669 SCV000846499 benign History of neurodevelopmental disorder 2017-05-25 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001085315 SCV001006087 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing

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