ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=)

gnomAD frequency: 0.00001  dbSNP: rs200636760
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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 RCV000876914 SCV001019554 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495324 SCV002798831 likely benign Primary erythromelalgia; Neuropathy, hereditary sensory and autonomic, type 2A; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 2021-07-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222161 SCV003916163 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SCN9A: BP4, BS2

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