ClinVar Miner

Submissions for variant NM_001289080.2(CNTN6):c.566C>A (p.Ser189Ter)

dbSNP: rs773080572
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Citogenómica y Microarreglos, Universidad Autonoma de Nuevo Leon RCV000663360 SCV000786639 likely pathogenic Autistic behavior 2018-07-16 criteria provided, single submitter research Although this variant was previously reported by 1000 genomes and has a dbSNP identifier as SNV; its frequency and validation are not yet provided, and in other databases such as ExAC, gnomaD, ClinVar, and NHLB, this SNV has not yet been reported. However, according to our criteria, this variant is predicted to produce a shorter protein with a length < 200 amino acids.

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