ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3859C>G (p.Leu1287Val)

gnomAD frequency: 0.00002  dbSNP: rs571869797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002210982 SCV002496285 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Occurs in the triple helical domain within an interruption of the canonical Gly-X-Y repeat
Fulgent Genetics, Fulgent Genetics RCV002496146 SCV002799627 uncertain significance Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002210982 SCV003479300 likely benign not provided 2023-06-09 criteria provided, single submitter clinical testing

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