ClinVar Miner

Submissions for variant NM_000996.4(RPL35A):c.21C>T (p.Ser7=) (rs145660527)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000865281 SCV000442679 likely benign Diamond-Blackfan anemia 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory,University of Chicago RCV000499744 SCV000596791 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV000865281 SCV001006219 benign Diamond-Blackfan anemia 5 2019-12-31 criteria provided, single submitter clinical testing

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