ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs)

dbSNP: rs782439454
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625943 SCV000746534 uncertain significance Coenzyme Q10 deficiency, primary, 3 2020-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000625943 SCV002791868 uncertain significance Coenzyme Q10 deficiency, primary, 3 2022-04-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000625943 SCV003814820 uncertain significance Coenzyme Q10 deficiency, primary, 3 2022-01-01 criteria provided, single submitter clinical testing

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