ClinVar Miner

Submissions for variant NM_001014.5(RPS10):c.204C>T (p.Tyr68=)

gnomAD frequency: 0.00004  dbSNP: rs368563040
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550233 SCV000637222 benign Diamond-Blackfan anemia 2024-01-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821535 SCV002067644 likely benign not specified 2018-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491007 SCV002801811 likely benign Diamond-Blackfan anemia 9 2022-02-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962501 SCV004784435 likely benign RPS10-related condition 2019-08-15 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).

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