ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) (rs199755408)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000596969 SCV000708538 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825738 SCV000967194 likely benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ala1482Val in exon 48 of COL4A3: This variant is not expected to have clinical significance because it has been identified in 0.52% (51/9770) of African chrom osomes by the Exome Aggregation Consortium (ExAC, ; dbSNP rs199755408).
Invitae RCV000596969 SCV001031663 likely benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333197 SCV001525713 uncertain significance Alport syndrome 3, autosomal dominant 2018-06-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000596969 SCV001867824 benign not provided 2020-02-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276576 SCV001462975 likely benign Alport syndrome 2019-10-28 no assertion criteria provided clinical testing

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