ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1985G>A (p.Arg662Lys)

dbSNP: rs2081354187
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331601 SCV001523678 uncertain significance Bardet-Biedl syndrome 16 2020-02-18 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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