ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=)

gnomAD frequency: 0.00014  dbSNP: rs372423505
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Total submissions: 3
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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 RCV000825739 SCV000967197 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Leu1032Leu in exon 37 of COL4A3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.03% (3/9744) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs372423505).
Invitae RCV000944211 SCV001090176 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274590 SCV001458849 likely benign Autosomal dominant Alport syndrome 2020-04-24 no assertion criteria provided clinical testing

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