ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)

gnomAD frequency: 0.00004  dbSNP: rs746303238
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863598 SCV001004288 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507480 SCV002798632 likely benign Medulloblastoma; Familial dysautonomia 2021-11-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835988 SCV002082024 likely benign Familial dysautonomia 2018-09-17 no assertion criteria provided clinical testing

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