ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.21C>A (p.Pro7=)

gnomAD frequency: 0.00041  dbSNP: rs530353117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613799 SCV000731932 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro7Pro in exon 1 of COL4A3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (25/13148) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org; dbSNP rs530353117).
Labcorp Genetics (formerly Invitae), Labcorp RCV001404627 SCV001606532 likely benign not provided 2024-08-29 criteria provided, single submitter clinical testing
GeneDx RCV001404627 SCV001820863 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498985 SCV002806412 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-11-03 criteria provided, single submitter clinical testing

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