ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.10650C>T (p.His3550=)

gnomAD frequency: 0.00004  dbSNP: rs372367817
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 RCV000960666 SCV001107675 likely benign Cohen syndrome 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000960666 SCV002082752 likely benign Cohen syndrome 2020-01-24 no assertion criteria provided clinical testing

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