ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.387T>C (p.Ser129=)

dbSNP: rs1593210265
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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 RCV001438183 SCV001641053 likely benign Carpenter syndrome 2020-11-03 criteria provided, single submitter clinical testing

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