ClinVar Miner

Submissions for variant NM_005993.5(TBCD):c.2137C>G (p.His713Asp)

dbSNP: rs200903034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714528 SCV000845224 uncertain significance Thiel-Behnke corneal dystrophy 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714529 SCV000845225 uncertain significance Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 2018-08-07 criteria provided, single submitter clinical testing

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