ClinVar Miner

Submissions for variant NM_181712.5(KANK4):c.2401T>C (p.Tyr801His)

gnomAD frequency: 0.00133  dbSNP: rs145623004
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000515633 SCV002486363 likely benign not provided 2024-12-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000515633 SCV005256281 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV000515633 SCV005909962 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing KANK4: BS2
OMIM RCV000515633 SCV000611734 uncertain significance not provided 2017-11-27 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV001849394 SCV002106691 likely pathogenic Nephrotic syndrome 2017-11-10 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003962424 SCV004791206 likely benign KANK4-related disorder 2022-04-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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