ClinVar Miner

Submissions for variant NM_004646.4(NPHS1):c.712delT (p.Phe238fs)

dbSNP: rs2513779823
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463191 SCV004191435 likely pathogenic Finnish congenital nephrotic syndrome 2023-07-31 criteria provided, single submitter clinical testing

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