ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.129-20A>T

gnomAD frequency: 0.00001  dbSNP: rs1477684645
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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 RCV002162816 SCV002413601 likely benign Joubert syndrome 16 2021-10-12 criteria provided, single submitter clinical testing

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