ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4656G>A (p.Met1552Ile) (rs77104306)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000400087 SCV000428066 likely benign Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517669 SCV000612970 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000517669 SCV000711824 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Met1552Ile in exon 47 of COL4A4: This variant is not expected to have clinical significance because it has been identified in 4.72% (458/9710) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs77104306).
GeneDx RCV000842036 SCV000984029 benign not provided 2018-04-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000842036 SCV001109068 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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