ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro)

dbSNP: rs1563916076
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680141 SCV000807585 uncertain significance Cohen syndrome 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory in trans with a pathogenic variant (E2268X) in a 5-year-old female with global delays, autistic features, short stature, microcephaly, dysmorphic features, hypotonia, joint laxity, scoliosis.

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