ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Invitae Patient Insights Network RCV001535705 SCV001749789 not provided Alport syndrome, autosomal recessive no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-22-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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