ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6312C>T (p.Ser2104=)

dbSNP: rs2130180969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001461844 SCV001665753 likely benign Cohen syndrome 2020-02-21 criteria provided, single submitter clinical testing

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