ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.2418-207_2418-165dup

dbSNP: rs147933855
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990115 SCV001140920 benign Congenital cataracts-facial dysmorphism-neuropathy syndrome 2019-05-28 criteria provided, single submitter clinical testing

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