ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=)

gnomAD frequency: 0.00378  dbSNP: rs115552583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962521 SCV001109607 benign not provided 2024-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000962521 SCV001987177 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503009 SCV002806423 likely benign Lethal congenital contracture syndrome 7; Neuropathy, congenital hypomyelinating, 3 2021-11-11 criteria provided, single submitter clinical testing

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