ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.142C>T (p.Arg48Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001277879 SCV001464858 uncertain significance Bardet-Biedl syndrome 2 2020-08-14 no assertion criteria provided clinical testing

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