ClinVar Miner

Submissions for variant NM_006258.4(PRKG1):c.1749C>T (p.Asn583=)

gnomAD frequency: 0.00002  dbSNP: rs765040798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660234 SCV000782237 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001487504 SCV001691993 likely benign Aortic aneurysm, familial thoracic 8 2023-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397342 SCV002712211 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-03-10 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.

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