ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs554736387
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Total submissions: 4
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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 Autosomal recessive Alport syndrome 2020-03-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001089935 SCV001522864 uncertain significance Autosomal recessive Alport syndrome 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].
Labcorp Genetics (formerly Invitae), Labcorp RCV001405130 SCV001607047 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001405130 SCV002504050 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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