ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2501+4T>G

dbSNP: rs1405951778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493465 SCV002780017 uncertain significance Medulloblastoma; Familial dysautonomia 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277384 SCV001464332 uncertain significance Familial dysautonomia 2020-08-21 no assertion criteria provided clinical testing

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