ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.877-20C>T

gnomAD frequency: 0.00043  dbSNP: rs138097933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719100 SCV000729449 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001719100 SCV002416290 likely benign not provided 2023-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498972 SCV002806607 likely benign Coenzyme Q10 deficiency, primary, 3 2021-08-17 criteria provided, single submitter clinical testing

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