ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.123del (p.Gly42fs) (rs1272140892)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, INSERM RCV000735933 SCV000839570 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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