ClinVar Miner

Submissions for variant NM_020381.4(PDSS2):c.431+17C>T

gnomAD frequency: 0.00141  dbSNP: rs192411971
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127442 SCV000171007 benign not specified 2014-05-27 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 RCV002055748 SCV002350165 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492484 SCV002798897 likely benign Coenzyme Q10 deficiency, primary, 3 2021-08-10 criteria provided, single submitter clinical testing

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