ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.1747G>A (p.Glu583Lys) (rs147641617)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669765 SCV000794548 uncertain significance Finnish congenital nephrotic syndrome 2017-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000669765 SCV000896730 uncertain significance Finnish congenital nephrotic syndrome 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992446 SCV001144761 uncertain significance not provided 2018-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000669765 SCV001460538 uncertain significance Finnish congenital nephrotic syndrome 2020-09-16 no assertion criteria provided clinical testing

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