ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.2464A>G (p.Ile822Val)

dbSNP: rs2061771729
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332707 SCV001525099 uncertain significance Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2020-05-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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