ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.129-18T>A

gnomAD frequency: 0.00001  dbSNP: rs1181378192
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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 RCV002113246 SCV002409681 likely benign Joubert syndrome 16 2021-06-07 criteria provided, single submitter clinical testing

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