ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.195C>T (p.Val65=)

dbSNP: rs2135158008
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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 RCV002213890 SCV002493818 likely benign Joubert syndrome 16 2021-04-05 criteria provided, single submitter clinical testing

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