ClinVar Miner

Submissions for variant NM_014625.4(NPHS2):c.885A>G (p.Ala295=)

gnomAD frequency: 0.00006  dbSNP: rs146940071
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000929634 SCV001075268 likely benign not provided 2024-05-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489237 SCV002800234 likely benign Nephrotic syndrome, type 2 2021-12-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002489237 SCV004049248 likely benign Nephrotic syndrome, type 2 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000929634 SCV005258143 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276834 SCV001463417 uncertain significance Steroid-resistant nephrotic syndrome 2020-04-24 no assertion criteria provided clinical testing

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