ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)

gnomAD frequency: 0.00468  dbSNP: rs201636741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704292 SCV000527468 benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000650610 SCV000772457 benign Joubert syndrome 20; Meckel syndrome, type 11 2024-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001704292 SCV005411354 uncertain significance not provided 2023-10-11 criteria provided, single submitter clinical testing BS1, PP3
Genetic Services Laboratory, University of Chicago RCV003151054 SCV003840134 likely benign not specified 2022-11-21 no assertion criteria provided clinical testing

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