ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=)

dbSNP: rs2130339813
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001373489 SCV001570207 likely benign Cohen syndrome 2023-06-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001373489 SCV002082621 uncertain significance Cohen syndrome 2020-10-01 no assertion criteria provided clinical testing

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