ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.132T>G (p.Val44=)

dbSNP: rs2128004147
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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 RCV001402968 SCV001604828 likely benign Carpenter syndrome 2022-05-12 criteria provided, single submitter clinical testing

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