ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) (rs4806213)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242112 SCV000310574 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000242112 SCV000345150 benign not specified 2016-08-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317525 SCV000411554 likely benign Finnish congenital nephrotic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000317525 SCV000743919 benign Finnish congenital nephrotic syndrome 2015-07-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712430 SCV000842923 benign not provided 2017-08-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000317525 SCV000733874 benign Finnish congenital nephrotic syndrome no assertion criteria provided clinical testing

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