ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) (rs146752751)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625096 SCV000743771 benign Bardet-Biedl syndrome 1 2015-01-08 criteria provided, single submitter clinical testing
Invitae RCV000862417 SCV001002924 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165278 SCV001327458 likely benign Bardet-Biedl syndrome 9 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625096 SCV000745833 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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