ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8391T>C (p.Tyr2797=)

gnomAD frequency: 0.00001  dbSNP: rs1221576628
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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 RCV002159121 SCV002474681 likely benign Cohen syndrome 2023-09-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707792 SCV005223972 likely benign not provided criteria provided, single submitter not provided

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