ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.118G>T (p.Val40Phe) (rs886043059)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725618 SCV000338210 likely pathogenic not provided 2016-03-18 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075302 SCV001240919 uncertain significance Retinal dystrophy 2017-12-22 criteria provided, single submitter clinical testing
Counsyl RCV000305383 SCV000800523 uncertain significance Bardet-Biedl syndrome 2 2019-05-16 no assertion criteria provided clinical testing

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