ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4156del (p.Ile1386fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center RCV004759355 SCV004812247 pathogenic Bardet-Biedl syndrome 14 2024-04-09 no assertion criteria provided clinical testing

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