ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1018A>G (p.Thr340Ala)

gnomAD frequency: 0.00002  dbSNP: rs770333327
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002480906 SCV002779628 uncertain significance Medulloblastoma; Familial dysautonomia 2022-04-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278727 SCV001465759 uncertain significance Familial dysautonomia 2020-08-21 no assertion criteria provided clinical testing

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