ClinVar Miner

Submissions for variant NM_001022.4(RPS19):c.356+18G>C

dbSNP: rs61762294
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234245 SCV000285673 benign Diamond-Blackfan anemia 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000996932 SCV001151933 benign not provided 2023-03-01 criteria provided, single submitter clinical testing RPS19: BS1, BS2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258318 SCV001435286 benign Diamond-Blackfan anemia 1 criteria provided, single submitter research The heterozygous c.356+18G>C variant in RPS19 has been identified in an individual with Diamond-Blackfan anaemia (PMID: 10590074), but has also been identified in >2% of European (Finnish) chromosomes and 14 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive Diamond-Blackfan anaemia.
GeneDx RCV000996932 SCV001941516 benign not provided 2018-12-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10590074, 27535533)
Ambry Genetics RCV000234245 SCV002618902 benign Diamond-Blackfan anemia 2015-05-20 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV001258318 SCV002800072 benign Diamond-Blackfan anemia 1 2021-12-14 criteria provided, single submitter clinical testing

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