ClinVar Miner

Submissions for variant NM_014317.5(PDSS1):c.1027-7_1027-6del

dbSNP: rs527296865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000385377 SCV000362005 uncertain significance Coenzyme Q10 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002522149 SCV002937663 benign not provided 2023-12-04 criteria provided, single submitter clinical testing

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