ClinVar Miner

Submissions for variant NM_015701.5(ERLEC1):c.1448A>G (p.Asn483Ser)

gnomAD frequency: 0.00005  dbSNP: rs146951835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dongguan Key Laboratory of Genetics and Infectious Diseases, Dongguan Institute of Pediatrics RCV001258380 SCV001194321 likely pathogenic Mandibular prognathia 2020-03-30 no assertion criteria provided case-control

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