ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1318C>G (p.Arg440Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005051721 SCV005675635 likely pathogenic COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2024-02-02 criteria provided, single submitter clinical testing

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