ClinVar Miner

Submissions for variant NM_001136191.3(KANK2):c.541A>G (p.Ser181Gly)

gnomAD frequency: 0.00001  dbSNP: rs1555820663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000515614 SCV005038897 uncertain significance Nephrotic syndrome 16 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000515614 SCV000611732 pathogenic Nephrotic syndrome 16 2018-07-18 no assertion criteria provided literature only

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