ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.127_129del (p.Asn43del)

dbSNP: rs72471101
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081469 SCV000113400 benign not specified 2013-05-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713079 SCV000843647 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713079 SCV001726305 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807026 SCV002054556 benign Developmental and epileptic encephalopathy, 62 2021-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807025 SCV002054557 benign Epilepsy, familial focal, with variable foci 4 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000713079 SCV002571629 benign not provided 2022-09-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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