ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.827C>A (p.Thr276Lys)

dbSNP: rs74315472
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
Medical Molecular Genetics Department, National Research Center RCV001172252 SCV000999159 likely pathogenic Metachromatic leukodystrophy criteria provided, single submitter clinical testing

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