ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.2444C>A (p.Thr815Asn) (rs746361190)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics RCV000256459 SCV000323253 likely pathogenic Lethal congenital contracture syndrome 7 2016-01-01 no assertion criteria provided clinical testing

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