ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.20997G>A (p.Leu6999=)

gnomAD frequency: 0.00781  dbSNP: rs187652380
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625437 SCV000745354 benign Hereditary sensory and autonomic neuropathy type 6 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000979000 SCV001126938 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 RCV001785683 SCV002028058 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395637 SCV002697439 likely benign Inborn genetic diseases 2019-07-11 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 RCV001785683 SCV004032684 benign not provided 2024-02-01 criteria provided, single submitter clinical testing DST: BP4, BP7, BS1, BS2
Clinical Genetics, Academic Medical Center RCV001701418 SCV001923718 benign not specified no assertion criteria provided clinical testing

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