ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.364-34A>G

gnomAD frequency: 0.68019  dbSNP: rs9889373
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001582425 SCV001821533 benign Neuropathy, congenital hypomyelinating, 3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582424 SCV001821534 benign Lethal congenital contracture syndrome 7 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001685547 SCV001901803 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685547 SCV005250467 benign not provided criteria provided, single submitter not provided

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