ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.303+11G>A

gnomAD frequency: 0.00001  dbSNP: rs549703822
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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 RCV002069465 SCV002428536 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279514 SCV001466611 uncertain significance Familial dysautonomia 2020-09-02 no assertion criteria provided clinical testing

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