ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.13820C>A (p.Pro4607His)

gnomAD frequency: 0.00744  dbSNP: rs138967674
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000979003 SCV001126941 benign Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001732002 SCV001981848 likely benign not provided 2021-04-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002391024 SCV002674135 likely benign Inborn genetic diseases 2023-07-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001732002 SCV004032685 benign not provided 2024-03-01 criteria provided, single submitter clinical testing DST: BP4, BS1, BS2

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