ClinVar Miner

Submissions for variant NM_022454.4(SOX17):c.954GCACCA[5] (p.316QH[6])

dbSNP: rs564144826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171360 SCV001328307 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PM4, BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV002068051 SCV002414543 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002068051 SCV004155805 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SOX17: PM4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003938542 SCV004751274 benign SOX17-related disorder 2021-02-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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