ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) (rs28939712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006460 SCV000026643 pathogenic Familial dysautonomia 2003-05-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789661 SCV000929034 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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