ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1461-1G>T

dbSNP: rs539544212
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667416 SCV000791855 likely pathogenic Familial dysautonomia 2017-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493094 SCV002785448 likely pathogenic Medulloblastoma; Familial dysautonomia 2021-11-17 criteria provided, single submitter clinical testing

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