ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.1362G>A (p.Ser454=)

gnomAD frequency: 0.02747  dbSNP: rs74537378
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444445 SCV000518707 benign not specified 2016-05-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000676511 SCV001005079 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676511 SCV005318859 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676511 SCV000802296 benign not provided 2016-02-29 no assertion criteria provided clinical testing

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