ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.2859T>C (p.Asp953=)

gnomAD frequency: 0.25255  dbSNP: rs1127986
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516556 SCV001724852 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001516556 SCV001883314 benign not provided 2021-05-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815575 SCV002062231 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 RCV001516556 SCV005254631 benign not provided criteria provided, single submitter not provided

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