ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1507G>A (p.Val503Met)

dbSNP: rs374865012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671854 SCV000796883 uncertain significance Bardet-Biedl syndrome 12 2018-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000671854 SCV002782871 uncertain significance Bardet-Biedl syndrome 12 2021-10-15 criteria provided, single submitter clinical testing

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