ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2204+18G>C

gnomAD frequency: 0.00213  dbSNP: rs115641835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720148 SCV000522622 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001720148 SCV002401869 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481309 SCV002800371 likely benign Medulloblastoma; Familial dysautonomia 2021-08-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274121 SCV001457909 likely benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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