ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.652-13T>C

gnomAD frequency: 0.00006  dbSNP: rs376654537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002103269 SCV002385973 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494200 SCV002801835 likely benign COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2022-02-25 criteria provided, single submitter clinical testing

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