ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro)

dbSNP: rs1554699019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626095 SCV000746720 uncertain significance Familial dysautonomia 2017-12-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000626095 SCV001786893 uncertain significance Familial dysautonomia 2021-07-14 criteria provided, single submitter clinical testing

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