ClinVar Miner

Submissions for variant NM_001077418.3(TMEM231):c.813G>A (p.Val271=)

gnomAD frequency: 0.08287  dbSNP: rs2242406
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000118632 SCV000231604 benign not specified 2015-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118632 SCV000306347 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000118632 SCV000516309 benign not specified 2016-02-02 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.
Invitae RCV001511886 SCV001719205 benign Joubert syndrome 20; Meckel syndrome, type 11 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118632 SCV000153040 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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