ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2177-10C>T

gnomAD frequency: 0.00579  dbSNP: rs199507113
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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 RCV002539180 SCV001016344 benign Early infantile epileptic encephalopathy with suppression bursts 2021-04-23 criteria provided, single submitter clinical testing
GeneDx RCV000874208 SCV001987349 benign not provided 2021-09-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000874208 SCV005241890 benign not provided criteria provided, single submitter not provided

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