ClinVar Miner

Submissions for variant NM_002295.6(RPSA):c.519G>A (p.Leu173=)

gnomAD frequency: 0.26529  dbSNP: rs2269350
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Total submissions: 4
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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 RCV000454824 SCV000540223 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001517706 SCV001726266 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796058 SCV002033770 benign Familial isolated congenital asplenia 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517706 SCV005238818 benign not provided criteria provided, single submitter not provided

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