ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser)

dbSNP: rs1877181545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092922 SCV001249664 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849472 SCV002106643 likely pathogenic Congenital anomaly of kidney and urinary tract 2019-06-22 no assertion criteria provided literature only

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