ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1734G>A (p.Leu578=)

dbSNP: rs1973129633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183546 SCV002475432 likely benign not provided 2022-11-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294513 SCV002587302 uncertain significance Focal segmental glomerulosclerosis 2021-05-04 criteria provided, single submitter clinical testing

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