ClinVar Miner

Submissions for variant NM_001080508.3(TBX18):c.1010del (p.Gly337fs)

dbSNP: rs869320679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000190534 SCV000245420 pathogenic Congenital anomalies of kidney and urinary tract 2 2015-08-06 no assertion criteria provided literature only
Yale Center for Mendelian Genomics, Yale University RCV001849334 SCV002106500 likely pathogenic Congenital anomaly of kidney and urinary tract 2018-08-24 no assertion criteria provided literature only

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