ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.629G>A (p.Ser210Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005043725 SCV005681310 uncertain significance Medulloblastoma; Familial dysautonomia 2024-05-31 criteria provided, single submitter clinical testing

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