ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) (rs28507107)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245102 SCV000316227 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365621 SCV000447427 likely benign Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000086944 SCV000558136 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709641 SCV000743651 benign Bardet-Biedl syndrome 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000709641 SCV000744984 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000086944 SCV000119196 not provided not provided no assertion provided not provided

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