ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.2065-4C>T

gnomAD frequency: 0.00001  dbSNP: rs777919151
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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 RCV001491616 SCV001696217 likely benign not provided 2022-04-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501685 SCV002813573 likely benign Cerebellar atrophy, visual impairment, and psychomotor retardation; 2021-12-09 criteria provided, single submitter clinical testing

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