ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1734C>T (p.Ile578=)

gnomAD frequency: 0.00001  dbSNP: rs774011311
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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 RCV001398330 SCV001600099 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049718 SCV005675658 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2024-01-01 criteria provided, single submitter clinical testing

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