ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=)

gnomAD frequency: 0.00004  dbSNP: rs533954733
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001832120 SCV002393139 likely benign Cohen syndrome 2021-09-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832120 SCV002085006 likely benign Cohen syndrome 2021-09-21 no assertion criteria provided clinical testing

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