ClinVar Miner

Submissions for variant NM_144596.4(TTC8):c.462_465del (p.Ser155fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV004555769 SCV005044716 pathogenic Bardet-Biedl syndrome 8 2024-05-18 criteria provided, single submitter clinical testing

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