ClinVar Miner

Submissions for variant NM_020771.4(HACE1):c.2292T>C (p.Phe764=)

gnomAD frequency: 0.21476  dbSNP: rs7752614
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
Genome-Nilou Lab RCV001702341 SCV001934081 benign Spastic paraplegia-severe developmental delay-epilepsy syndrome 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077173 SCV002403967 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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