ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) (rs17006082)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546031 SCV000636544 benign Bardet-Biedl syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709645 SCV000743647 benign Bardet-Biedl syndrome 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709645 SCV000744974 likely benign Bardet-Biedl syndrome 1 2017-01-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001144905 SCV001305525 uncertain significance Bardet-Biedl syndrome 12 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000709645 SCV000745766 benign Bardet-Biedl syndrome 1 2017-04-19 no assertion criteria provided clinical testing

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