ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.1134C>T (p.Ser378=)

dbSNP: rs543231659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602226 SCV000727424 likely benign not specified 2018-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064302 SCV002443665 benign not provided 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498963 SCV002805723 likely benign Coenzyme Q10 deficiency, primary, 3 2021-11-18 criteria provided, single submitter clinical testing

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