ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)

gnomAD frequency: 0.99534  dbSNP: rs4784677
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301991 SCV000338207 benign not specified 2016-11-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710724 SCV000841022 benign not provided 2017-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081362 SCV001000176 benign Bardet-Biedl syndrome 2024-02-01 criteria provided, single submitter clinical testing
Mendelics RCV000989606 SCV001140110 benign Bardet-Biedl syndrome 2 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989606 SCV001775076 benign Bardet-Biedl syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553955 SCV001775077 benign Retinitis pigmentosa 74 2021-07-14 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888677 SCV004705080 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000710724 SCV005292131 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000301991 SCV001742101 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000301991 SCV001927013 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000301991 SCV001953731 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000301991 SCV001966308 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000989606 SCV002089310 benign Bardet-Biedl syndrome 2 2019-11-16 no assertion criteria provided clinical testing

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