ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser)

gnomAD frequency: 0.00001  dbSNP: rs772606107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254044 SCV001429950 likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2020-04-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001254044 SCV003818975 uncertain significance Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2020-02-27 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV001254044 SCV005420973 likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2023-01-06 criteria provided, single submitter clinical testing

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