ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.508G>A (p.Asp170Asn) (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].
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171247 SCV000221444 likely pathogenic not provided no assertion criteria provided research

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