ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg)

gnomAD frequency: 0.00352  dbSNP: rs146329532
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000277242 SCV000343628 benign not specified 2016-08-03 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514423 SCV000610761 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514423 SCV001021792 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000514423 SCV001832006 benign not provided 2020-04-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514423 SCV002545141 benign not provided 2022-04-01 criteria provided, single submitter clinical testing COL4A1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000514423 SCV005218273 likely benign not provided criteria provided, single submitter not provided

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