ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.407-8C>G

dbSNP: rs778605297
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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 RCV001977387 SCV002259624 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-05 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the TMEM67 gene. It does not directly change the encoded amino acid sequence of the TMEM67 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. ClinVar contains an entry for this variant (Variation ID: 1473114). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005042628 SCV005675602 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2024-01-12 criteria provided, single submitter clinical testing

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