ClinVar Miner

Submissions for variant NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu)

gnomAD frequency: 0.01144  dbSNP: rs34432513
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290526 SCV000456162 likely benign Neuropathy, hereditary sensory and autonomic, type 2B 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000431969 SCV000518308 benign not specified 2016-02-25 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 RCV000545765 SCV000648496 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000290526 SCV002048458 benign Neuropathy, hereditary sensory and autonomic, type 2B 2023-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482894 SCV002796081 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Neuropathy, hereditary sensory and autonomic, type 2B 2021-11-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000545765 SCV005259717 likely benign not provided criteria provided, single submitter not provided

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