ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser) (rs554736387)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV001089935 SCV001245136 uncertain significance Alport syndrome, autosomal recessive 2020-03-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001089935 SCV001522864 uncertain significance Alport syndrome, autosomal recessive 2020-07-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001405130 SCV001607047 likely benign not provided 2020-11-17 criteria provided, single submitter clinical testing

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