ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.447T>C (p.His149=)

gnomAD frequency: 0.00002  dbSNP: rs775602185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069464 SCV002333200 likely benign not provided 2023-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499480 SCV002807343 likely benign Medulloblastoma; Familial dysautonomia 2021-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279511 SCV001466608 uncertain significance Familial dysautonomia 2020-07-21 no assertion criteria provided clinical testing

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