ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.55del (p.Val19fs)

dbSNP: rs1555524593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667044 SCV000791435 likely pathogenic Bardet-Biedl syndrome 2 2017-05-17 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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