ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.508G>A (p.Asp170Asn)

gnomAD frequency: 0.00001  dbSNP: rs786205498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171247 SCV000221444 likely pathogenic not provided criteria provided, single submitter research
Baylor Genetics RCV001329456 SCV001520905 uncertain significance Bardet-Biedl syndrome 2 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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