ClinVar Miner

Submissions for variant NM_002295.6(RPSA):c.-8T>C

gnomAD frequency: 0.50177  dbSNP: rs1803893
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454424 SCV000540222 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome-Nilou Lab RCV001796057 SCV002033768 benign Familial isolated congenital asplenia 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708903 SCV005238816 benign not provided criteria provided, single submitter not provided

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