ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter)

dbSNP: rs1562435373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Unit, University of L'Aquila RCV000754992 SCV000803380 likely pathogenic Hereditary sensory and autonomic neuropathy type 6 2018-08-14 no assertion criteria provided clinical testing This variant (NM_001144769.2:c.12988A>T) is seen in compound heterozygosity with the other allele (c.608C>A).
OMIM RCV000754992 SCV001980670 pathogenic Hereditary sensory and autonomic neuropathy type 6 2021-10-15 no assertion criteria provided literature only

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