ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2547A>G (p.Pro849=)

gnomAD frequency: 0.00001  dbSNP: rs764837607
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875143 SCV001017429 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478989 SCV002799322 likely benign Medulloblastoma; Familial dysautonomia 2022-03-30 criteria provided, single submitter clinical testing

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