ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.1911_1912del (p.Glu637fs)

dbSNP: rs1555933313
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000627001 SCV000747704 uncertain significance Febrile seizure (within the age range of 3 months to 6 years); Macrocephaly; Ventriculomegaly; Myocarditis 2017-01-01 criteria provided, single submitter clinical testing

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