ClinVar Miner

Submissions for variant NM_001723.7(DST):c.4400G>A (p.Arg1467His)

gnomAD frequency: 0.00292  dbSNP: rs147704763
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000271367 SCV000464268 uncertain significance Hereditary sensory and autonomic neuropathy type 6 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000651771 SCV000773625 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970046 SCV004778169 benign DST-related disorder 2024-05-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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