ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.348G>T (p.Val116=)

gnomAD frequency: 0.00002  dbSNP: rs779485875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253132 SCV000313522 likely benign not specified criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500916 SCV002807116 likely benign Coenzyme Q10 deficiency, primary, 3 2021-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518648 SCV002935341 likely benign not provided 2023-06-20 criteria provided, single submitter clinical testing

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