ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.249C>G (p.Tyr83Ter)

dbSNP: rs772222126
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280832 SCV001468173 pathogenic Finnish congenital nephrotic syndrome 2020-01-08 no assertion criteria provided clinical testing

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