ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.1414A>G (p.Met472Val) (rs2277596)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085941 SCV000253634 likely benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490439 SCV000267222 likely pathogenic Bardet-Biedl syndrome 4 2016-03-18 criteria provided, single submitter reference population
PreventionGenetics,PreventionGenetics RCV000246726 SCV000315045 likely benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000490439 SCV001139651 benign Bardet-Biedl syndrome 4 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490439 SCV001277067 uncertain significance Bardet-Biedl syndrome 4 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132689 SCV000172642 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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