ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val)

gnomAD frequency: 0.00004  dbSNP: rs770358940
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711486 SCV000243121 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Invitae RCV000636354 SCV000757793 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-24 criteria provided, single submitter clinical testing

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