ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.1647G>C (p.Thr549=)

gnomAD frequency: 0.00003  dbSNP: rs371484897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000897628 SCV001041783 likely benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001277290 SCV002805399 likely benign Finnish congenital nephrotic syndrome 2021-07-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277290 SCV001464212 uncertain significance Finnish congenital nephrotic syndrome 2020-03-10 no assertion criteria provided clinical testing

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