ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1513G>C (p.Val505Leu)

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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 RCV005043471 SCV005675651 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2024-06-08 criteria provided, single submitter clinical testing

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