ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.65C>T (p.Ala22Val) (rs116617171)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490334 SCV000267424 uncertain significance Finnish congenital nephrotic syndrome 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000490334 SCV000796327 likely benign Finnish congenital nephrotic syndrome 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV000903298 SCV001047757 benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000490334 SCV001461580 benign Finnish congenital nephrotic syndrome 2020-09-16 no assertion criteria provided clinical testing

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