ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.140-28C>G

gnomAD frequency: 0.00019  dbSNP: rs375353411
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248641 SCV000306339 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000248641 SCV000597499 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV000544987 SCV000652862 benign Joubert syndrome 20; Meckel syndrome, type 11 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000248641 SCV000714479 benign not specified 2017-09-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV003884433 SCV004698678 benign not provided 2023-12-01 criteria provided, single submitter clinical testing TMEM231: BP4, BS1, BS2

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