ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg)

gnomAD frequency: 0.00001  dbSNP: rs1052149878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513269 SCV000608636 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Department of Human Genetics, University Hospital Magdeburg RCV001201337 SCV001372227 likely benign not specified 2020-07-09 criteria provided, single submitter clinical testing For this variant in-silico prediction yielded a consistent neutral prediction on the gene function (PB4). The variant was found to be inherited by the unaffected father of the index patient (BS2).

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