ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)

gnomAD frequency: 0.01256  dbSNP: rs34209904
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000252776 SCV000316944 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095211 SCV000468802 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515058 SCV000610103 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV000261105 SCV000636555 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing

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