ClinVar Miner

Submissions for variant NM_002353.3(TACSTD2):c.653del (p.Asp218fs)

dbSNP: rs780819073
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genomics, Lopukhin Federal Research and Clinical Center of Physical-chemical Medicine of the Federal Medical Biological Agency RCV002460351 SCV002556359 pathogenic Gelatinous droplike corneal dystrophy criteria provided, single submitter research

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