ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2189G>A (p.Arg730Gln)

gnomAD frequency: 0.00001  dbSNP: rs374558203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306378 SCV000343454 uncertain significance not provided 2016-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487264 SCV002780079 uncertain significance Medulloblastoma; Familial dysautonomia 2021-10-11 criteria provided, single submitter clinical testing

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