ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.274+11A>G

gnomAD frequency: 0.00004  dbSNP: rs200487330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603482 SCV000722658 likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064047 SCV002406048 benign Joubert syndrome 14 2024-01-04 criteria provided, single submitter clinical testing

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