ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.151-10T>C

gnomAD frequency: 0.00001  dbSNP: rs768610434
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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 RCV001473290 SCV001677442 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279515 SCV001466612 uncertain significance Familial dysautonomia 2020-08-14 no assertion criteria provided clinical testing

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