ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1750+9C>G

dbSNP: rs1828896199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069437 SCV002329529 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278715 SCV001465747 uncertain significance Familial dysautonomia 2020-08-14 no assertion criteria provided clinical testing

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