ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.217C>T (p.Gln73Ter)

dbSNP: rs199940492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264339 SCV001442443 likely pathogenic Bardet-Biedl syndrome 2 2019-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014316 SCV005646161 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-01-09 criteria provided, single submitter clinical testing

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