ClinVar Miner

Submissions for variant NM_020771.4(HACE1):c.2014+27A>G

gnomAD frequency: 0.14695  dbSNP: rs7741145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001702209 SCV001934082 benign Spastic paraplegia-severe developmental delay-epilepsy syndrome 2021-08-10 criteria provided, single submitter clinical testing

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