ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.979-16C>T

gnomAD frequency: 0.00002  dbSNP: rs757127826
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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 RCV002076077 SCV002427704 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486921 SCV002796078 likely benign COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2021-11-10 criteria provided, single submitter clinical testing

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