ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.2440-11T>C

gnomAD frequency: 0.00001  dbSNP: rs767482660
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002219354 SCV002374656 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-03-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486844 SCV002800670 likely benign COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2022-03-31 criteria provided, single submitter clinical testing

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