ClinVar Miner

Submissions for variant NM_014625.3(NPHS2):c.790G>C (p.Glu264Gln) (rs369697947)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517931 SCV000614353 likely pathogenic not provided 2018-05-10 criteria provided, single submitter clinical testing
Counsyl RCV000673733 SCV000798970 uncertain significance Nephrotic syndrome, idiopathic, steroid-resistant 2018-04-02 criteria provided, single submitter clinical testing

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