ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1644-13T>C

gnomAD frequency: 0.00009  dbSNP: rs557540663
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001566124 SCV001789598 likely benign not provided 2019-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001566124 SCV002406352 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501911 SCV002807046 likely benign Medulloblastoma; Familial dysautonomia 2022-05-24 criteria provided, single submitter clinical testing

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