ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5166T>C (p.Pro1722=)

gnomAD frequency: 0.00003  dbSNP: rs760587370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603104 SCV000721095 likely benign not specified 2017-07-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529616 SCV003469810 likely benign Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-11-13 criteria provided, single submitter clinical testing

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