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
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].
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171247 SCV000221444 likely pathogenic not provided criteria provided, single submitter research

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