ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr)

gnomAD frequency: 0.01243  dbSNP: rs75875272
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349325 SCV000428091 likely benign Alport syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000604388 SCV000717984 benign not specified 2017-12-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000946687 SCV001092834 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000349325 SCV002078887 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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