ClinVar Miner

Submissions for variant NM_007059.4(KPTN):c.631G>C (p.Gly211Arg)

gnomAD frequency: 0.00755  dbSNP: rs182019900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501205 SCV000595465 benign not specified 2016-08-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514058 SCV000610689 likely benign not provided 2017-08-24 criteria provided, single submitter clinical testing
Invitae RCV001080436 SCV000654887 benign Macrocephaly-developmental delay syndrome 2024-01-08 criteria provided, single submitter clinical testing

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