ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1246G>A (p.Val416Met)

gnomAD frequency: 0.00375  dbSNP: rs61764067
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082809 SCV000114857 benign not specified 2014-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000205415 SCV000261860 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000082809 SCV000316933 benign not specified 2016-04-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000709636 SCV000743764 likely benign Bardet-Biedl syndrome 1 2015-01-27 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000709636 SCV000745168 benign Bardet-Biedl syndrome 1 2017-10-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001165173 SCV001327346 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics RCV004704848 SCV005226680 likely benign not provided criteria provided, single submitter not provided

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