ClinVar Miner

Submissions for variant NM_015375.3(DSTYK):c.53C>T (p.Pro18Leu)

gnomAD frequency: 0.00047  dbSNP: rs202068245
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416593 SCV000265666 uncertain significance Congenital anomalies of kidney and urinary tract 1 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002057056 SCV002439509 benign not provided 2023-08-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002057056 SCV004811219 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing DSTYK: BS1
PreventionGenetics, part of Exact Sciences RCV003947685 SCV004772766 likely benign DSTYK-related disorder 2024-06-27 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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