ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.748C>T (p.Gln250Ter)

dbSNP: rs2113666898
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KTest Genetics, KTest RCV001594451 SCV001499955 pathogenic Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis no assertion criteria provided clinical testing

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