ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2847C>T (p.His949=)

gnomAD frequency: 0.00001  dbSNP: rs529456133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001489341 SCV001693883 likely benign not provided 2022-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495736 SCV002797209 likely benign Medulloblastoma; Familial dysautonomia 2022-03-10 criteria provided, single submitter clinical testing

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