ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn)

gnomAD frequency: 0.00540  dbSNP: rs34678569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440904 SCV000510866 likely benign not provided 2016-10-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000440904 SCV001026202 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000440904 SCV001888227 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915161 SCV004735004 likely benign RBBP8-related condition 2019-04-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV000118130 SCV000152474 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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