ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu)

gnomAD frequency: 0.00357  dbSNP: rs34843786
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878835 SCV001021813 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000878835 SCV002013034 likely benign not provided 2021-04-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000878835 SCV004135617 benign not provided 2023-08-01 criteria provided, single submitter clinical testing COL4A1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000878835 SCV005218292 likely benign not provided criteria provided, single submitter not provided
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV002249566 SCV001250706 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2020-03-17 no assertion criteria provided clinical testing

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