ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2571A>G (p.Glu857=)

dbSNP: rs2489223128
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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 RCV002944001 SCV003286694 likely benign Cohen syndrome 2022-01-03 criteria provided, single submitter clinical testing

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