ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.665-11T>C

dbSNP: rs886039807
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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 RCV003765571 SCV004608656 likely benign Joubert syndrome 20; Meckel syndrome, type 11 2023-12-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000256458 SCV000322789 pathogenic Joubert syndrome and related disorders no assertion criteria provided research

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