ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.195T>C (p.Gly65=) (rs201278620)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254438 SCV000302098 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000734844 SCV000727742 likely benign not provided 2020-04-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17216251, 14582039)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734844 SCV000863019 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing
Invitae RCV000734844 SCV001028467 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000734844 SCV001143229 likely benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001138178 SCV001298211 likely benign Alport syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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