ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.2039-43A>G

gnomAD frequency: 0.99307  dbSNP: rs1471197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001620012 SCV001842486 benign not provided 2021-05-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815593 SCV002062229 benign Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001620012 SCV005254617 benign not provided criteria provided, single submitter not provided

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