ClinVar Miner

Submissions for variant NM_014361.4(CNTN5):c.1047A>T (p.Lys349Asn)

gnomAD frequency: 0.00130  dbSNP: rs186615197
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514958 SCV000610997 likely benign not provided 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV000514958 SCV001097105 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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