ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.871-1G>C (rs375450996)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516946 SCV000612978 likely pathogenic not provided 2017-07-21 criteria provided, single submitter clinical testing
Counsyl RCV000667558 SCV000792030 likely pathogenic Alport syndrome, autosomal recessive 2017-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000516946 SCV001803435 likely pathogenic not provided 2020-11-11 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in in-frame deletion within a critical region. Variant damages or destroys the canonical splice acceptor site in intron 14, and is expected to cause abnormal gene splicing; if the splice outcome is exon skip, the loss of the encoded residues in the triple helical region is expected to disrupt normal protein folding and function; Reported as likely pathogenic in ClinVar but additional evidence is not available (ClinVar Variation ID: 447195; Landrum et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016)

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