ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11215+8G>T

gnomAD frequency: 0.00001  dbSNP: rs1285906381
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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 RCV001360331 SCV001556245 likely benign Cohen syndrome 2023-01-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001360331 SCV002082793 uncertain significance Cohen syndrome 2020-08-12 no assertion criteria provided clinical testing

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