ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.139+42G>A

gnomAD frequency: 0.00024  dbSNP: rs375718217
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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 RCV001455086 SCV001658836 likely benign Joubert syndrome 20; Meckel syndrome, type 11 2025-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426110 SCV004145040 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing TMEM231: BP4, BP7

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