ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=)

gnomAD frequency: 0.00001  dbSNP: rs753494412
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000930452 SCV001076105 likely benign Cohen syndrome 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000930452 SCV002082628 likely benign Cohen syndrome 2020-12-17 no assertion criteria provided clinical testing

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