ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3223-16C>G

gnomAD frequency: 0.00005  dbSNP: rs372907186
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664988 SCV000789038 likely benign Familial dysautonomia 2016-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060808 SCV002455667 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing

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