ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8262T>C (p.Asn2754=)

dbSNP: rs2492005966
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003498085 SCV004244756 likely benign Cohen syndrome 2023-11-13 criteria provided, single submitter clinical testing

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