ClinVar Miner

Submissions for variant NM_003907.3(EIF2B5):c.600T>C (p.Asn200=)

gnomAD frequency: 0.00001  dbSNP: rs757699338
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001506678 SCV001711608 likely benign not provided 2023-10-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826348 SCV002079141 likely benign Vanishing white matter disease 2021-07-06 no assertion criteria provided clinical testing

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