ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.198A>G (p.Pro66=) (rs147947155)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518352 SCV000612962 benign not specified 2016-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000518352 SCV000724811 likely benign not specified 2017-12-04 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000518352 SCV000967066 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro66Pro in exon 5 of COL4A4: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2.05% (194/9478) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs147947155).

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