ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.2031A>T (p.Thr677=)

gnomAD frequency: 0.51537  dbSNP: rs1946892
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713081 SCV000843649 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713081 SCV001720620 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000713081 SCV001900433 benign not provided 2019-11-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807318 SCV002054543 benign Developmental and epileptic encephalopathy, 62 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807317 SCV002054544 benign Epilepsy, familial focal, with variable foci 4 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594104 SCV005087389 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 76% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 71. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000713081 SCV005239571 benign not provided criteria provided, single submitter not provided

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