ClinVar Miner

Submissions for variant NM_182476.3(COQ6):c.164-12dup

dbSNP: rs745746077
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224031 SCV000281627 likely benign not provided 2016-05-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Fulgent Genetics, Fulgent Genetics RCV002485453 SCV002800466 likely benign Familial steroid-resistant nephrotic syndrome with sensorineural deafness 2021-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000224031 SCV003033239 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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