ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.101G>C (p.Arg34Pro)

dbSNP: rs137852836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001392 SCV000800510 uncertain significance Bardet-Biedl syndrome 10 2017-03-29 criteria provided, single submitter clinical testing
OMIM RCV000001392 SCV000021542 pathogenic Bardet-Biedl syndrome 10 2006-05-01 no assertion criteria provided literature only

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