ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.871-6T>C

gnomAD frequency: 0.00001  dbSNP: rs749753913
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299288 SCV001488372 likely benign not provided 2022-09-16 criteria provided, single submitter clinical testing
Genomics, Clalit Research Institute, Clalit Health Care RCV004004984 SCV004812000 likely pathogenic Hematuria, benign familial, 1 2024-04-10 criteria provided, single submitter clinical testing Frequency: The variant is rare, observed in 1 alleles out of 248,844 (0%) in the gnomAD reference population dataset (PM2_Support). Frequency among cases: This variant was previusly described in the literature as a founder variant among the Bukharian Jews sub poplution (37895203) (PS4, PP1). Prediction tools: Splicing tools yield conflicting predictions of the impact of the variant on the gene or gene product. Clinical evidence: This variant has previously been described in ClinVar (VCV1002812) with the following classifications: LB (1) / VUS (1).
Natera, Inc. RCV001830159 SCV002084162 uncertain significance Alport syndrome 2020-12-16 no assertion criteria provided clinical testing

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