ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.51A>G (p.Gln17=)

gnomAD frequency: 0.06714  dbSNP: rs17006077
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247011 SCV000316230 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094939 SCV000447406 benign Bardet-Biedl syndrome 12 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000312355 SCV000636542 benign Bardet-Biedl syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706392 SCV001883709 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001094939 SCV001460975 benign Bardet-Biedl syndrome 12 2020-09-16 no assertion criteria provided clinical testing

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