ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.646G>C (p.Val216Leu)

gnomAD frequency: 0.00050  dbSNP: rs34673364
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241696 SCV001414732 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835110 SCV002087101 uncertain significance Finnish congenital nephrotic syndrome 2020-02-26 no assertion criteria provided clinical testing

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