ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.105T>C (p.Pro35=)

dbSNP: rs1370730016
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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 RCV002080719 SCV002371398 likely benign Joubert syndrome 16 2022-08-09 criteria provided, single submitter clinical testing

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