ClinVar Miner

Submissions for variant NM_016277.5(RAB23):c.642C>T (p.Val214=)

dbSNP: rs1593204004
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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 RCV001497760 SCV001702497 likely benign Carpenter syndrome 2021-11-15 criteria provided, single submitter clinical testing

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